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Erschienen in: Die Dermatologie 2/2022

25.01.2022 | Nävi | Leitthema

Gutartige nichtmelanozytäre Hauttumoren bei Syndromen

verfasst von: George-Sorin Tiplica, Klaus Fritz, Alexandra Irina Butacu, Loredana Ungureanu, Carmen Maria Sălăvăstru

Erschienen in: Die Dermatologie | Ausgabe 2/2022

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Zusammenfassung

Gutartige Hauttumoren kommen bei einer großen Zahl von Hautveränderungen vor. Die Diagnose wird in der Regel durch das klinische Bild und die Anamnese gestellt. Eine histopathologische Untersuchung ist nicht in jedem Fall zwingend erforderlich. Die Therapie besteht meistens in der Entfernung der Hautveränderungen durch Kryotherapie, Elektrochirurgie oder Laserabtragung. Differenzierte Phänotypisierungen einschließlich genetischer und epigenetischer Befunde liefern die Grundlage für ein neues Verständnis der pathogenetischen Mechanismen. Einige gutartige Hauttumoren können Teil von Syndromen sein, daher sollten Zusammenhänge mit nichtdermatologischen Befunden bekannt sein, die diese seltenen Erkrankungen charakterisieren. Der epidermale Nävus kann mit Gefäßmalformationen in Beziehung stehen, der Naevus sebaceus sowie der Becker-Nävus mit Defekten zerebral, okulär und am Skelett, Pilomatrixome können kolorektalen Karzinomen beim Gardner-Syndrom vorangehen, tuberöse Sklerose kann assoziiert sein nicht nur mit Veränderungen im Zentralnervensystem, sondern auch an Lunge, Herz oder Nieren.
Literatur
1.
Zurück zum Zitat Happle R (2020) Mosaicism and epidermal nevi. Braun-Falco’s dermatology, S 1–22 Happle R (2020) Mosaicism and epidermal nevi. Braun-Falco’s dermatology, S 1–22
2.
Zurück zum Zitat Thomas VD, Snavely NR, Lee KK, Swanson NA (2012) Benign epithelial tumors, hamartomas, and hyperplasias. In: Goldsmith LA, Katz S, Gilchrest BA, Paller AS, Leffell DJ, Wolff K (Hrsg) Fitzpatrick’s dermatology in general medicine, 8. Aufl. McGraw-Hill, Medical, S 1319–1336 Thomas VD, Snavely NR, Lee KK, Swanson NA (2012) Benign epithelial tumors, hamartomas, and hyperplasias. In: Goldsmith LA, Katz S, Gilchrest BA, Paller AS, Leffell DJ, Wolff K (Hrsg) Fitzpatrick’s dermatology in general medicine, 8. Aufl. McGraw-Hill, Medical, S 1319–1336
3.
Zurück zum Zitat Poomeechaiwong S, Golitz LE (1990) Hamartomas. Adv Dermatol 5:257–287PubMed Poomeechaiwong S, Golitz LE (1990) Hamartomas. Adv Dermatol 5:257–287PubMed
4.
Zurück zum Zitat Tjarks BJ, Gardner JM, Riddle ND (2019) Hamartomas of skin and soft tissue. Semin Diagn Pathol 36(1):48–61PubMed Tjarks BJ, Gardner JM, Riddle ND (2019) Hamartomas of skin and soft tissue. Semin Diagn Pathol 36(1):48–61PubMed
5.
Zurück zum Zitat Happle R (2020) The group of epidermal nevus syndromes. Part 1. Well defined phenotypes. J Am Acad Dermatol 63(1):1–22 Happle R (2020) The group of epidermal nevus syndromes. Part 1. Well defined phenotypes. J Am Acad Dermatol 63(1):1–22
6.
Zurück zum Zitat Cohen MM Jr. (2005) Proteus syndrome: an update. Am J Med Genet C Semin Med Genet 137:38–52 Cohen MM Jr. (2005) Proteus syndrome: an update. Am J Med Genet C Semin Med Genet 137:38–52
7.
Zurück zum Zitat Cohen MM Jr. (2014) Proteus syndrome review: molecular, clinical and pathological features. Clin Genet 85:111–119PubMed Cohen MM Jr. (2014) Proteus syndrome review: molecular, clinical and pathological features. Clin Genet 85:111–119PubMed
8.
Zurück zum Zitat Pilarski R (2009) Cowden syndrome: a critical review of the clinical literature. J Genet Couns 18(1):13–27PubMed Pilarski R (2009) Cowden syndrome: a critical review of the clinical literature. J Genet Couns 18(1):13–27PubMed
9.
Zurück zum Zitat Bessis D, Plaisancie J, Gaston V, Bieth E (2017) Fibroblast growth factor receptor 3 epidermal naevus syndrome with urothelial mosaicism for the activating p.Ser249Cys FGFR3 mutation. Acta Derm Venereol 10:402–403 Bessis D, Plaisancie J, Gaston V, Bieth E (2017) Fibroblast growth factor receptor 3 epidermal naevus syndrome with urothelial mosaicism for the activating p.Ser249Cys FGFR3 mutation. Acta Derm Venereol 10:402–403
10.
Zurück zum Zitat Desai SD, Vora R, Bharani S (2014) Garcia-Hafner-Happle syndrome: a case report and review of a rare sub-type of epidermal nevus syndrome. J Pediatr Neurosci 9(1):66PubMedPubMedCentral Desai SD, Vora R, Bharani S (2014) Garcia-Hafner-Happle syndrome: a case report and review of a rare sub-type of epidermal nevus syndrome. J Pediatr Neurosci 9(1):66PubMedPubMedCentral
11.
Zurück zum Zitat Bergqvist C, Abdallah B, Hasbani DJ, Abbas O, Kibbi AG et al (2018) CHILD syndrome: a modified pathogenesis-targeted therapeutic approach. Am J Med Genet A 176:733–738PubMed Bergqvist C, Abdallah B, Hasbani DJ, Abbas O, Kibbi AG et al (2018) CHILD syndrome: a modified pathogenesis-targeted therapeutic approach. Am J Med Genet A 176:733–738PubMed
12.
Zurück zum Zitat Lai-Cheong JE, Elias PM, Paller AS (2013) Pathogenesis-based therapies in ichthyoses. Dermatol Ther 26(1):46–54PubMedPubMedCentral Lai-Cheong JE, Elias PM, Paller AS (2013) Pathogenesis-based therapies in ichthyoses. Dermatol Ther 26(1):46–54PubMedPubMedCentral
13.
Zurück zum Zitat Wang SM, Hsieh YJ, Chang KM, Tsai HL, Chen CP (2014) Schimmelpenning syndrome: a case report and literature review. Pediatr Neonatol 55:487–490PubMed Wang SM, Hsieh YJ, Chang KM, Tsai HL, Chen CP (2014) Schimmelpenning syndrome: a case report and literature review. Pediatr Neonatol 55:487–490PubMed
14.
Zurück zum Zitat Asch S, Sugarman JL (2018) Epidermal nevus syndromes: new insights into whorls and swirls. Pediatr Dermatol 35(1):21–29PubMed Asch S, Sugarman JL (2018) Epidermal nevus syndromes: new insights into whorls and swirls. Pediatr Dermatol 35(1):21–29PubMed
15.
Zurück zum Zitat Asch S, Sugarman JL (2015) Epidermal nevus syndromes. Handb Clin Neurol 132:291–316PubMed Asch S, Sugarman JL (2015) Epidermal nevus syndromes. Handb Clin Neurol 132:291–316PubMed
16.
Zurück zum Zitat Happle R (2009) Speckled lentiginous naevus: which of the two disorders do you mean? Clin Exp Dermatol 34:133–135PubMed Happle R (2009) Speckled lentiginous naevus: which of the two disorders do you mean? Clin Exp Dermatol 34:133–135PubMed
17.
Zurück zum Zitat John AM, Schwartz RA (2016) Muir-Torre syndrome (MTS): an update and approach to diagnosis and management. J Am Acad Dermatol 74(3):558–566PubMed John AM, Schwartz RA (2016) Muir-Torre syndrome (MTS): an update and approach to diagnosis and management. J Am Acad Dermatol 74(3):558–566PubMed
18.
Zurück zum Zitat Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR (2009) Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet 76(1):1–8PubMedPubMedCentral Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR (2009) Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet 76(1):1–8PubMedPubMedCentral
19.
Zurück zum Zitat Ponti G, Ponz de Leon M (2005) Muir-Torre syndrome. Lancet Oncol 6(12):980–987PubMed Ponti G, Ponz de Leon M (2005) Muir-Torre syndrome. Lancet Oncol 6(12):980–987PubMed
20.
Zurück zum Zitat Le S, Ansari U, Mumtaz A, Malik K, Patel P, Doyle A, Khachemoune A (2017) Lynch syndrome and Muir-Torre syndrome: an update and review on the genetics, epidemiology, and management of two related disorders. Dermatol Online J 23(11):13030/qt8sg5w98jPubMed Le S, Ansari U, Mumtaz A, Malik K, Patel P, Doyle A, Khachemoune A (2017) Lynch syndrome and Muir-Torre syndrome: an update and review on the genetics, epidemiology, and management of two related disorders. Dermatol Online J 23(11):13030/qt8sg5w98jPubMed
22.
Zurück zum Zitat Ferguson-Smith MA, Goudie DR (2014) Diogenic/multilocus aetiology of multiple self-healing epithelioma (Ferguson-Smith disease): TGFBR1 and a second linked locus. Int J Biochem Cell Biol 53:520–525PubMed Ferguson-Smith MA, Goudie DR (2014) Diogenic/multilocus aetiology of multiple self-healing epithelioma (Ferguson-Smith disease): TGFBR1 and a second linked locus. Int J Biochem Cell Biol 53:520–525PubMed
23.
Zurück zum Zitat Pham F, Buiret G, Bonnet-Dupeyron MN, Beschet I, Skowron F (2021) Multiple aggressive keratoacanthomas associated with Ferguson-Smith syndrome, successfully treated by cetuximab and cisplatin. Eur J Dermatol 2:271–272 Pham F, Buiret G, Bonnet-Dupeyron MN, Beschet I, Skowron F (2021) Multiple aggressive keratoacanthomas associated with Ferguson-Smith syndrome, successfully treated by cetuximab and cisplatin. Eur J Dermatol 2:271–272
24.
Zurück zum Zitat Nofal A, Assaf M, Nofal E, Alradi M (2014) Generalized eruptive keratoacanthoma: proposed diagnostic criteria and therapeutic evaluation. J Eur Acad Dermatol Venereol 28:397–404PubMed Nofal A, Assaf M, Nofal E, Alradi M (2014) Generalized eruptive keratoacanthoma: proposed diagnostic criteria and therapeutic evaluation. J Eur Acad Dermatol Venereol 28:397–404PubMed
25.
Zurück zum Zitat Mascitti H, De Masson A, Brunet Possenti F, Bouaziz JD, Laly P et al (2019) Successful treatment of generalized eruptive keratoacanthomas of Grzybowski with acitretin. Dermatol Ther 9:383–388 Mascitti H, De Masson A, Brunet Possenti F, Bouaziz JD, Laly P et al (2019) Successful treatment of generalized eruptive keratoacanthomas of Grzybowski with acitretin. Dermatol Ther 9:383–388
26.
Zurück zum Zitat Sami N, Bussian A (2015) Acitretin induces remission in generalized eruptive keratoacanthoma of Grzybowsky. Int J Dermatol 54:e56–e69 Sami N, Bussian A (2015) Acitretin induces remission in generalized eruptive keratoacanthoma of Grzybowsky. Int J Dermatol 54:e56–e69
27.
Zurück zum Zitat Street ML, White JW Jr, Gibson LE (1990) Multiple keratoacanthomas treated with oral retinoids. J Am Acad Dermatol 23:862–866PubMed Street ML, White JW Jr, Gibson LE (1990) Multiple keratoacanthomas treated with oral retinoids. J Am Acad Dermatol 23:862–866PubMed
28.
Zurück zum Zitat Torchia D (2021) Nevus comedonicus syndrome: a systematic review of the literature. Pediatr Dermatol 38:359–363PubMed Torchia D (2021) Nevus comedonicus syndrome: a systematic review of the literature. Pediatr Dermatol 38:359–363PubMed
29.
Zurück zum Zitat Torchia D (2021) Becker nevus syndrome: a 2020 update. J Am Acad Dermatol 85:e101–e103PubMed Torchia D (2021) Becker nevus syndrome: a 2020 update. J Am Acad Dermatol 85:e101–e103PubMed
30.
Zurück zum Zitat Patel P, Malik K, Klachemoune A (2015) Sebaceous and Becker’s nevus: overview of their presentation, pathogenesis, associations, and treatment. Am J Clin Dermatol 16:197–204PubMed Patel P, Malik K, Klachemoune A (2015) Sebaceous and Becker’s nevus: overview of their presentation, pathogenesis, associations, and treatment. Am J Clin Dermatol 16:197–204PubMed
31.
Zurück zum Zitat Del Carmen Boente M, Asial R, Primc NB, Happle R (2013) Angora hair nevus. A further case of an unusual epidermal nevus representing a hallmark of angora hair nevus syndrome. J Dermatol Case Rep 7(2):49 Del Carmen Boente M, Asial R, Primc NB, Happle R (2013) Angora hair nevus. A further case of an unusual epidermal nevus representing a hallmark of angora hair nevus syndrome. J Dermatol Case Rep 7(2):49
32.
Zurück zum Zitat Kazakov DV (2016) Brooke-Spiegler syndrome and phenotypic variants: an update. Head Neck Pathol 10(2):125–130PubMedPubMedCentral Kazakov DV (2016) Brooke-Spiegler syndrome and phenotypic variants: an update. Head Neck Pathol 10(2):125–130PubMedPubMedCentral
33.
Zurück zum Zitat Szepietowski JC, Wasik F, Szybejko-Machaj G, Bieniek A, Schwartz RA (2001) Brooke–Spiegler syndrome. J Eur Acad Dermatol Venereol 15(4):346–349PubMed Szepietowski JC, Wasik F, Szybejko-Machaj G, Bieniek A, Schwartz RA (2001) Brooke–Spiegler syndrome. J Eur Acad Dermatol Venereol 15(4):346–349PubMed
34.
Zurück zum Zitat Nonaka D, Rosai J, Spagnolo D et al (2004) Cylindroma of the breast of skin adnexal type: a study of 4 cases. Am J Surg Pathol 28:1070–1075PubMed Nonaka D, Rosai J, Spagnolo D et al (2004) Cylindroma of the breast of skin adnexal type: a study of 4 cases. Am J Surg Pathol 28:1070–1075PubMed
35.
Zurück zum Zitat Yakubov E, Ghoochani A, Buslei R, Buchfelder M, Eyupoglu IY, Savaskan N (2016) Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency. Oncoscience 3:149–155PubMedPubMedCentral Yakubov E, Ghoochani A, Buslei R, Buchfelder M, Eyupoglu IY, Savaskan N (2016) Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency. Oncoscience 3:149–155PubMedPubMedCentral
36.
Zurück zum Zitat Lopes S, Vide J, Moreira E, Azevedo F (2017) Cowden syndrome: clinical case and a brief review. Dermatol Online J 23(8):13030/qt0023k3x0PubMed Lopes S, Vide J, Moreira E, Azevedo F (2017) Cowden syndrome: clinical case and a brief review. Dermatol Online J 23(8):13030/qt0023k3x0PubMed
37.
Zurück zum Zitat Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E (2013) Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. JNCI J Natl Cancer Inst 105:1607–1616PubMed Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E (2013) Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. JNCI J Natl Cancer Inst 105:1607–1616PubMed
38.
Zurück zum Zitat Gammon A, Jasperson K, Champine M (2016) Genetic basis of Cowden syndrome and its implications for clinical practice and risk management. Appl Clin Genet 9:83–92PubMedPubMedCentral Gammon A, Jasperson K, Champine M (2016) Genetic basis of Cowden syndrome and its implications for clinical practice and risk management. Appl Clin Genet 9:83–92PubMedPubMedCentral
39.
Zurück zum Zitat Geh JL, Moss AL (1999) Multiple pilomatrixomata and myotonic dystrophy: a familial association. Br J Plast Surg 52(2):143–145PubMed Geh JL, Moss AL (1999) Multiple pilomatrixomata and myotonic dystrophy: a familial association. Br J Plast Surg 52(2):143–145PubMed
40.
Zurück zum Zitat Sherrod QJ, Chiu MW, Gutierrez MA (2008) Multiple pilomatricomas: cutaneous marker for myotonic dystrophy. Dermatol Online J 14(7):22PubMed Sherrod QJ, Chiu MW, Gutierrez MA (2008) Multiple pilomatricomas: cutaneous marker for myotonic dystrophy. Dermatol Online J 14(7):22PubMed
41.
Zurück zum Zitat Cantwell AR, Reed WB (1965) Myotonia atrophica and multiple calcifying epithelioma of Malherbe. Acta Derm Venereol 45:387–390PubMed Cantwell AR, Reed WB (1965) Myotonia atrophica and multiple calcifying epithelioma of Malherbe. Acta Derm Venereol 45:387–390PubMed
42.
Zurück zum Zitat Antohi C, Haba D, Caba L, Ciofu ML, Drug VL, Bărboi OB, Dobrovăt BI, Pânzaru MC, Gorduza NC, Lupu VV, Dimofte D, Gug C, Gorduza EV (2021) Novel mutation in APC gene associated with multiple osteomas in a family and review of genotype-phenotype correlations of extracolonic manifestations in Gardner syndrome. Diagnostics (Basel) 11(9):1560. https://doi.org/10.3390/diagnostics11091560CrossRef Antohi C, Haba D, Caba L, Ciofu ML, Drug VL, Bărboi OB, Dobrovăt BI, Pânzaru MC, Gorduza NC, Lupu VV, Dimofte D, Gug C, Gorduza EV (2021) Novel mutation in APC gene associated with multiple osteomas in a family and review of genotype-phenotype correlations of extracolonic manifestations in Gardner syndrome. Diagnostics (Basel) 11(9):1560. https://​doi.​org/​10.​3390/​diagnostics11091​560CrossRef
43.
Zurück zum Zitat Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A (2018) Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin 68:394–424PubMed Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A (2018) Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin 68:394–424PubMed
44.
Zurück zum Zitat Pearlman R, Frankel WL, Swanson B, Zhao W, Yilmaz A, Miller K, Bacher J, Bigley C, Nelsen L, Goodfellow PJ et al (2017) Prevalence and spectrum of germline cancer susceptibility gene mutations among patients with early-onset colorectal cancer. JAMA Oncol 3:464–471PubMedPubMedCentral Pearlman R, Frankel WL, Swanson B, Zhao W, Yilmaz A, Miller K, Bacher J, Bigley C, Nelsen L, Goodfellow PJ et al (2017) Prevalence and spectrum of germline cancer susceptibility gene mutations among patients with early-onset colorectal cancer. JAMA Oncol 3:464–471PubMedPubMedCentral
45.
Zurück zum Zitat Bisgaard ML, Bülow S (2006) Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts. Am J Med Genet A 140(3):200PubMed Bisgaard ML, Bülow S (2006) Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts. Am J Med Genet A 140(3):200PubMed
46.
Zurück zum Zitat Pulvermacker B, Seroussi D, Haddad R, Mitrofanoff M (2006) Pilomatricoma or calcifying epithelioma of Malherbe. A pediatric review of 89 cases. Ann Chir Plast Esthet 52(1):39–42PubMed Pulvermacker B, Seroussi D, Haddad R, Mitrofanoff M (2006) Pilomatricoma or calcifying epithelioma of Malherbe. A pediatric review of 89 cases. Ann Chir Plast Esthet 52(1):39–42PubMed
47.
Zurück zum Zitat Handler MZ, Derrick KM, Lutz RE, Morrell DS, Davenport ML, Armstrong AW (2013) Prevalence of pilomatricoma in Turner syndrome: findings from a multicenter study. JAMA Dermatol 149(5):559PubMed Handler MZ, Derrick KM, Lutz RE, Morrell DS, Davenport ML, Armstrong AW (2013) Prevalence of pilomatricoma in Turner syndrome: findings from a multicenter study. JAMA Dermatol 149(5):559PubMed
48.
Zurück zum Zitat Ciriacks K, Knabel D, Waite MB (2020) Syndromes associated with multiple pilomatricomas: when should clinicians be concerned? Pediatr Dermatol 37(1):9–17. https://doi.org/10.1111/pde.139479–17PubMed Ciriacks K, Knabel D, Waite MB (2020) Syndromes associated with multiple pilomatricomas: when should clinicians be concerned? Pediatr Dermatol 37(1):9–17. https://​doi.​org/​10.​1111/​pde.​139479–17PubMed
49.
Zurück zum Zitat Bondy CA, Turner Syndrome Study Group (2007) Care of girls and women with Turner syndrome: a guideline of the Turner syndrome study group. J Clin Endocrinol Metab 92(1):10PubMed Bondy CA, Turner Syndrome Study Group (2007) Care of girls and women with Turner syndrome: a guideline of the Turner syndrome study group. J Clin Endocrinol Metab 92(1):10PubMed
50.
Zurück zum Zitat Wooldridge J, Zunich J (1995) Trisomy 9 syndrome: report of a case with Crohn disease and review of the literature. Am J Med Genet 56(3):258PubMed Wooldridge J, Zunich J (1995) Trisomy 9 syndrome: report of a case with Crohn disease and review of the literature. Am J Med Genet 56(3):258PubMed
51.
Zurück zum Zitat Blaya B, Gonzalez-Hermosa R, Gardeazabal J et al (2009) Multiple pilomatricomas in association with trisomy 9. Pediatr Dermatol 26:482–484PubMed Blaya B, Gonzalez-Hermosa R, Gardeazabal J et al (2009) Multiple pilomatricomas in association with trisomy 9. Pediatr Dermatol 26:482–484PubMed
52.
Zurück zum Zitat Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ (2002) Kabuki syndrome: a review study of three hundred patients. Clin Dysmorphol 11(2):95–102PubMed Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ (2002) Kabuki syndrome: a review study of three hundred patients. Clin Dysmorphol 11(2):95–102PubMed
53.
Zurück zum Zitat Jones CD, Ho W, Robertson BF, Gunn E, Morley S (2018) Pilomatrixoma: a comprehensive review of the literature. Am J Dermatopathol 40(9):631–641PubMed Jones CD, Ho W, Robertson BF, Gunn E, Morley S (2018) Pilomatrixoma: a comprehensive review of the literature. Am J Dermatopathol 40(9):631–641PubMed
54.
Zurück zum Zitat Bueno AL, de Souza ME, Graziadio C, Kiszewski AE (2020) Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome. An Bras Dermatol 95:619–622PubMedPubMedCentral Bueno AL, de Souza ME, Graziadio C, Kiszewski AE (2020) Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome. An Bras Dermatol 95:619–622PubMedPubMedCentral
55.
57.
Zurück zum Zitat Rokunohe D, Nakano H, Akasaka E, Toyomaki Y, Sawamura D (2016) Rubinstein-Taybi syndrome with multiple pilomatricomas: the first case diagnosed by CREBBP mutation analysis. J Dermatol Sci 83:240–242PubMed Rokunohe D, Nakano H, Akasaka E, Toyomaki Y, Sawamura D (2016) Rubinstein-Taybi syndrome with multiple pilomatricomas: the first case diagnosed by CREBBP mutation analysis. J Dermatol Sci 83:240–242PubMed
58.
Zurück zum Zitat Hollmig ST, Tollefson MM, Kim J, Khuu P (2013) Multiple eruptive pilomatricomas in a 9-year-old boy with glioblastoma. Pediatr Dermatol 30(6):756–758PubMed Hollmig ST, Tollefson MM, Kim J, Khuu P (2013) Multiple eruptive pilomatricomas in a 9-year-old boy with glioblastoma. Pediatr Dermatol 30(6):756–758PubMed
59.
Zurück zum Zitat Epstein CJ (2001) Down syndrome (Trisomy 21). In: Scriver CR, Beaudet AL, Sly WS, Valle D (Hrsg) The metabolic and molecular bases of inherited disease, 8. Aufl. McGraw-Hill, New York, S 1223 Epstein CJ (2001) Down syndrome (Trisomy 21). In: Scriver CR, Beaudet AL, Sly WS, Valle D (Hrsg) The metabolic and molecular bases of inherited disease, 8. Aufl. McGraw-Hill, New York, S 1223
60.
Zurück zum Zitat Maroon M, Tyler W, Marks VJ (1990) Calcinosis cutis associated with syringomas: a transepidermal elimination disorder in a patient with Down syndrome. J Am Acad Dermatol 23(2):372–375PubMed Maroon M, Tyler W, Marks VJ (1990) Calcinosis cutis associated with syringomas: a transepidermal elimination disorder in a patient with Down syndrome. J Am Acad Dermatol 23(2):372–375PubMed
61.
Zurück zum Zitat Patrizi A, Neri I, Marzaduri S, Varotti E, Passarini B (1998) Syringoma: a review of twenty-nine cases. Acta Derm Venereol 78:460–462PubMed Patrizi A, Neri I, Marzaduri S, Varotti E, Passarini B (1998) Syringoma: a review of twenty-nine cases. Acta Derm Venereol 78:460–462PubMed
62.
Zurück zum Zitat Schwartz RA, Fernández G, Kotulska K, Jóźwiak S (2007) Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol 57(2):189PubMed Schwartz RA, Fernández G, Kotulska K, Jóźwiak S (2007) Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol 57(2):189PubMed
63.
Zurück zum Zitat Curatolo P, Bombardieri R, Jozwiak S (2008) Tuberous sclerosis. Lancet 372(9639):657PubMed Curatolo P, Bombardieri R, Jozwiak S (2008) Tuberous sclerosis. Lancet 372(9639):657PubMed
64.
Zurück zum Zitat Bongiorno MA, Nathan N, Oyerinde O, Wang JA, Lee CC, Brown GT, Moss J, Darling TN (2017) Clinical characteristics of connective tissue nevi in tuberous sclerosis complex with special emphasis on shagreen patches. JAMA Dermatol 153(7):660–665PubMedPubMedCentral Bongiorno MA, Nathan N, Oyerinde O, Wang JA, Lee CC, Brown GT, Moss J, Darling TN (2017) Clinical characteristics of connective tissue nevi in tuberous sclerosis complex with special emphasis on shagreen patches. JAMA Dermatol 153(7):660–665PubMedPubMedCentral
65.
Zurück zum Zitat Webb DW, Clarke A, Fryer A, Osborne JP (1996) The cutaneous features of tuberous sclerosis: a population study. Br J Dermatol 135(1):1PubMed Webb DW, Clarke A, Fryer A, Osborne JP (1996) The cutaneous features of tuberous sclerosis: a population study. Br J Dermatol 135(1):1PubMed
66.
Zurück zum Zitat Goh S, Butler W, Thiele EA (2004) Subependymal giant cell tumors in tuberous sclerosis complex. Neurology 63(8):1457PubMed Goh S, Butler W, Thiele EA (2004) Subependymal giant cell tumors in tuberous sclerosis complex. Neurology 63(8):1457PubMed
67.
Zurück zum Zitat Rowley SA, O’Callaghan FJ, Osborne JP (2001) Ophthalmic manifestations of tuberous sclerosis: a population based study. Br J Ophthalmol 85(4):420PubMedPubMedCentral Rowley SA, O’Callaghan FJ, Osborne JP (2001) Ophthalmic manifestations of tuberous sclerosis: a population based study. Br J Ophthalmol 85(4):420PubMedPubMedCentral
68.
Zurück zum Zitat Hinton RB, Prakash A, Romp RL, Krueger DA, Knilans TK (2014) Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the international tuberous sclerosis consensus group. J Am Heart Assoc 3(6):e1493PubMedPubMedCentral Hinton RB, Prakash A, Romp RL, Krueger DA, Knilans TK (2014) Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the international tuberous sclerosis consensus group. J Am Heart Assoc 3(6):e1493PubMedPubMedCentral
69.
Zurück zum Zitat Teng JM, Cowen EW, Wataya-Kaneda M, Gosnell ES, Witman PM, Hebert AA, Mlynarczyk G, Soltani K, Darling TN (2014) Dermatologic and dental aspects of the 2012 international tuberous sclerosis complex consensus statements. JAMA Dermatol 150(10):1095PubMed Teng JM, Cowen EW, Wataya-Kaneda M, Gosnell ES, Witman PM, Hebert AA, Mlynarczyk G, Soltani K, Darling TN (2014) Dermatologic and dental aspects of the 2012 international tuberous sclerosis complex consensus statements. JAMA Dermatol 150(10):1095PubMed
70.
Zurück zum Zitat Weiss ET, Geronemus RG (2010) New technique using combined pulsed dye laser and fractional resurfacing for treating facial angiofibromas in tuberous sclerosis. Lasers Surg Med 42(5):357–360PubMed Weiss ET, Geronemus RG (2010) New technique using combined pulsed dye laser and fractional resurfacing for treating facial angiofibromas in tuberous sclerosis. Lasers Surg Med 42(5):357–360PubMed
71.
Zurück zum Zitat Sadowski K, Kotulska K, Schwartz RA, Jóźwiak S (2016) Systemic effects of treatment with mTOR inhibitors in tuberous sclerosis complex: a comprehensive review. J Eur Acad Dermatol Venereol 30(4):586–594PubMed Sadowski K, Kotulska K, Schwartz RA, Jóźwiak S (2016) Systemic effects of treatment with mTOR inhibitors in tuberous sclerosis complex: a comprehensive review. J Eur Acad Dermatol Venereol 30(4):586–594PubMed
72.
Zurück zum Zitat Pope V, Dupuis L, Kannu P, Mendoza-Londono R, Sajic D, So J, Yoon G, Lara-Corrales I (2016) Buschke-Ollendorff syndrome: a novel case series and systematic review. Br J Dermatol 174(4):723PubMed Pope V, Dupuis L, Kannu P, Mendoza-Londono R, Sajic D, So J, Yoon G, Lara-Corrales I (2016) Buschke-Ollendorff syndrome: a novel case series and systematic review. Br J Dermatol 174(4):723PubMed
73.
Zurück zum Zitat Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR (2004) Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet 36(11):1213–1218PubMed Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR (2004) Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet 36(11):1213–1218PubMed
74.
Zurück zum Zitat McCuaig CC, Vera C, Kokta V, Marcoux D, Hatami A, Thuraisingam T, Marton D, Fortier-Riberdy G, Powell J (2012) Connective tissue nevi in children: institutional experience and review. J Am Acad Dermatol 67(5):890–897PubMed McCuaig CC, Vera C, Kokta V, Marcoux D, Hatami A, Thuraisingam T, Marton D, Fortier-Riberdy G, Powell J (2012) Connective tissue nevi in children: institutional experience and review. J Am Acad Dermatol 67(5):890–897PubMed
75.
Zurück zum Zitat Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F, Brandi ML, Endocrine Society (2012) Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab 97(9):2990PubMed Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F, Brandi ML, Endocrine Society (2012) Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab 97(9):2990PubMed
76.
Zurück zum Zitat van Leeuwaarde RS, Dreijerink KM, Ausems MG, Beijers HJ, Dekkers OM, de Herder WW, van der Horst-Schrivers AN, Drent ML, Bisschop PH, Havekes B, Peeters PHM, Pijnappel RM, Vriens MR, Valk GD (2017) MEN1-dependent breast cancer: indication for early screening? Results from the Dutch MEN1 study group. J Clin Endocrinol Metab 102(6):2083PubMed van Leeuwaarde RS, Dreijerink KM, Ausems MG, Beijers HJ, Dekkers OM, de Herder WW, van der Horst-Schrivers AN, Drent ML, Bisschop PH, Havekes B, Peeters PHM, Pijnappel RM, Vriens MR, Valk GD (2017) MEN1-dependent breast cancer: indication for early screening? Results from the Dutch MEN1 study group. J Clin Endocrinol Metab 102(6):2083PubMed
77.
Zurück zum Zitat Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (2017) Neurofibromatosis type 1. Nat Rev Dis Primers 3:17004PubMed Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (2017) Neurofibromatosis type 1. Nat Rev Dis Primers 3:17004PubMed
78.
Zurück zum Zitat Young H, Hyman S, North K (2002) Neurofibromatosis 1: clinical review and exceptions to the rules. J Child Neurol 17(8):613–621PubMed Young H, Hyman S, North K (2002) Neurofibromatosis 1: clinical review and exceptions to the rules. J Child Neurol 17(8):613–621PubMed
79.
Zurück zum Zitat Landry JP, Schertz KL, Chiang YJ, Bhalla AD, Yi M, Keung EZ, Scally CP, Feig BW, Hunt KK, Roland CL, Guadagnolo A, Bishop AJ, Lazar AJ, Slopis JM, McCutcheon IE, Torres KE (2021) Comparison of cancer prevalence in patients with neurofibromatosis type 1 at an academic cancer center vs in the general population from 1985 to 2020. JAMA Netw Open 4(3):e210945PubMedPubMedCentral Landry JP, Schertz KL, Chiang YJ, Bhalla AD, Yi M, Keung EZ, Scally CP, Feig BW, Hunt KK, Roland CL, Guadagnolo A, Bishop AJ, Lazar AJ, Slopis JM, McCutcheon IE, Torres KE (2021) Comparison of cancer prevalence in patients with neurofibromatosis type 1 at an academic cancer center vs in the general population from 1985 to 2020. JAMA Netw Open 4(3):e210945PubMedPubMedCentral
80.
Zurück zum Zitat Zvulunov A, Barak Y, Metzker A (1995) Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia: world statistical analysis. Arch Dermatol 131(8):904–908PubMed Zvulunov A, Barak Y, Metzker A (1995) Juvenile xanthogranuloma, neurofibromatosis, and juvenile chronic myelogenous leukemia: world statistical analysis. Arch Dermatol 131(8):904–908PubMed
81.
Zurück zum Zitat Ortonne N, Wolkenstein P, Blakeley JO, Korf B, Plotkin SR, Riccardi VM, Miller DC, Huson S, Peltonen J, Rosenberg A, Carroll SL, Verma SK, Mautner V, Upadhyaya M, Stemmer-Rachamimov A (2018) Cutaneous neurofibromas: current clinical and pathologic issues. Neurology 91(2):S5PubMed Ortonne N, Wolkenstein P, Blakeley JO, Korf B, Plotkin SR, Riccardi VM, Miller DC, Huson S, Peltonen J, Rosenberg A, Carroll SL, Verma SK, Mautner V, Upadhyaya M, Stemmer-Rachamimov A (2018) Cutaneous neurofibromas: current clinical and pathologic issues. Neurology 91(2):S5PubMed
82.
Zurück zum Zitat Plotkin SR, Bredella MA, Cai W, Kassarjian A, Harris GJ, Esparza S, Merker VL, Munn LL, Muzikansky A, Askenazi M, Nguyen R, Wenzel R, Mautner VF (2012) Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis. PLoS ONE 7(4):e35711PubMedPubMedCentral Plotkin SR, Bredella MA, Cai W, Kassarjian A, Harris GJ, Esparza S, Merker VL, Munn LL, Muzikansky A, Askenazi M, Nguyen R, Wenzel R, Mautner VF (2012) Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis. PLoS ONE 7(4):e35711PubMedPubMedCentral
83.
Zurück zum Zitat Ruggieri M, Huson SM (2001) The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology 56(11):1433PubMed Ruggieri M, Huson SM (2001) The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology 56(11):1433PubMed
84.
Zurück zum Zitat Bhatia S, Chen Y, Wong FL, Hageman L, Smith K, Korf B, Cannon A, Leidy DJ, Paz A, Andress JE, Friedman GK, Metrock K, Neglia JP, Arnold M, Turcotte LM, De Blank P, Leisenring W, Armstrong GT, Robison LL, Clapp DW, Shannon K, Nakamura JL, Fisher MJ (2019) Subsequent neoplasms after a primary tumor in individuals with neurofibromatosis type 1. J Clin Oncol 37(32):3050PubMedPubMedCentral Bhatia S, Chen Y, Wong FL, Hageman L, Smith K, Korf B, Cannon A, Leidy DJ, Paz A, Andress JE, Friedman GK, Metrock K, Neglia JP, Arnold M, Turcotte LM, De Blank P, Leisenring W, Armstrong GT, Robison LL, Clapp DW, Shannon K, Nakamura JL, Fisher MJ (2019) Subsequent neoplasms after a primary tumor in individuals with neurofibromatosis type 1. J Clin Oncol 37(32):3050PubMedPubMedCentral
85.
Zurück zum Zitat Supsrisunjai C, Hsu CK, Michael M, Duval C, Lee JY, Yang HS, Huang HY, Chaikul T, Onoufriadis A, Steiner RA, Ariëns RA (2020) Coagulation factor XIII‑A subunit missense mutation in the pathobiology of autosomal dominant multiple dermatofibromas. J Invest Dermatol 140(3):624–635PubMed Supsrisunjai C, Hsu CK, Michael M, Duval C, Lee JY, Yang HS, Huang HY, Chaikul T, Onoufriadis A, Steiner RA, Ariëns RA (2020) Coagulation factor XIII‑A subunit missense mutation in the pathobiology of autosomal dominant multiple dermatofibromas. J Invest Dermatol 140(3):624–635PubMed
86.
Zurück zum Zitat Mashiah J, Hadj-Rabia S, Dompmartin A, Harroche A, Laloum-Grynberg E, Wolter M, Amoric JC, Hamel-Teillac D, Guero S, Fraitag S, Bodemer C (2014) Infantile myofibromatosis: a series of 28 cases. J Am Acad Dermatol 71(2):264–270PubMed Mashiah J, Hadj-Rabia S, Dompmartin A, Harroche A, Laloum-Grynberg E, Wolter M, Amoric JC, Hamel-Teillac D, Guero S, Fraitag S, Bodemer C (2014) Infantile myofibromatosis: a series of 28 cases. J Am Acad Dermatol 71(2):264–270PubMed
87.
Zurück zum Zitat Marsh DJ, Dahia PL, Zheng Z, Liaw D, Parsons R, Gorlin RJ, Eng C (1997) Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet 16(4):333PubMed Marsh DJ, Dahia PL, Zheng Z, Liaw D, Parsons R, Gorlin RJ, Eng C (1997) Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet 16(4):333PubMed
88.
Zurück zum Zitat Roszkowski M, Dabrowski D (1997) Encephalo-cranio-cutaneous lipomatosis (ECCL)—Haberland syndrome. A case report with review of the literature. Neurol Neurochir Pol 31(3):607–613PubMed Roszkowski M, Dabrowski D (1997) Encephalo-cranio-cutaneous lipomatosis (ECCL)—Haberland syndrome. A case report with review of the literature. Neurol Neurochir Pol 31(3):607–613PubMed
89.
Zurück zum Zitat Moog U (2009) Encephalocraniocutaneous lipomatosis. J Med Genet 46(11):721–729PubMed Moog U (2009) Encephalocraniocutaneous lipomatosis. J Med Genet 46(11):721–729PubMed
90.
Zurück zum Zitat Happle R, Küster W (1998) Nevus psiloliparus: a distinct fatty tissue nevus. Dermatology 197(1):6–10PubMed Happle R, Küster W (1998) Nevus psiloliparus: a distinct fatty tissue nevus. Dermatology 197(1):6–10PubMed
91.
Zurück zum Zitat Ross CM (1969) Generalized folded skin with an underlying lipomatous nevus: the Michelin tire baby. Arch Dermatol 100(3):320–323PubMed Ross CM (1969) Generalized folded skin with an underlying lipomatous nevus: the Michelin tire baby. Arch Dermatol 100(3):320–323PubMed
92.
Zurück zum Zitat Ulucan H, Koparir E, Koparir A, Karaca E, Emre R, Gezdirici A, Yosunkaya E, Seven M, Ozen M, Yuksel A (2013) Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome. Clin Dysmorphol 22(2):87–90PubMed Ulucan H, Koparir E, Koparir A, Karaca E, Emre R, Gezdirici A, Yosunkaya E, Seven M, Ozen M, Yuksel A (2013) Circumferential skin folds and multiple anomalies: confirmation of a distinct autosomal recessive Michelin tire baby syndrome. Clin Dysmorphol 22(2):87–90PubMed
93.
Zurück zum Zitat Kondoh T, Eguchi J, Hamasaki Y, Doi T, Kinoshita E, Matsumoto T, Abe K, Ohtani Y, Moriuchi H (2004) Hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome: a case report. Am J Med Genet A 125(3):290–292 Kondoh T, Eguchi J, Hamasaki Y, Doi T, Kinoshita E, Matsumoto T, Abe K, Ohtani Y, Moriuchi H (2004) Hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome: a case report. Am J Med Genet A 125(3):290–292
94.
Zurück zum Zitat Palit A, Inamadar AC (2007) Circumferential skin folds in a child: a case of Michelin tire baby syndrome. Indian J Dermatol Venereol Leprol 73(1):49PubMed Palit A, Inamadar AC (2007) Circumferential skin folds in a child: a case of Michelin tire baby syndrome. Indian J Dermatol Venereol Leprol 73(1):49PubMed
95.
Zurück zum Zitat Schmidt LS, Linehan WM (2014) Hereditary leiomyomatosis and renal cell carcinoma. Int J Nephrol Renovasc Dis 7:253–260PubMedPubMedCentral Schmidt LS, Linehan WM (2014) Hereditary leiomyomatosis and renal cell carcinoma. Int J Nephrol Renovasc Dis 7:253–260PubMedPubMedCentral
96.
Zurück zum Zitat Alam NA, Barclay E, Rowan AJ, Tyrer JP, Calonje E, Manek S, Kelsell D, Leigh I, Olpin S, Tomlinson IP (2005) Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Arch Dermatol 141(2):199–206PubMed Alam NA, Barclay E, Rowan AJ, Tyrer JP, Calonje E, Manek S, Kelsell D, Leigh I, Olpin S, Tomlinson IP (2005) Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome. Arch Dermatol 141(2):199–206PubMed
97.
Zurück zum Zitat Germain DP (2017) Pseudoxanthoma elasticum. Orphanet J Rare Dis 12(1):1–3 Germain DP (2017) Pseudoxanthoma elasticum. Orphanet J Rare Dis 12(1):1–3
98.
Zurück zum Zitat Luo H, Faghankhani M, Cao Y, Uitto J, Li Q (2021) Molecular genetics and modifier genes in pseudoxanthoma elasticum, a heritable multisystem ectopic mineralization disorder. J Invest Dermatol 141(5):1148PubMed Luo H, Faghankhani M, Cao Y, Uitto J, Li Q (2021) Molecular genetics and modifier genes in pseudoxanthoma elasticum, a heritable multisystem ectopic mineralization disorder. J Invest Dermatol 141(5):1148PubMed
99.
Zurück zum Zitat Campens L, Vanakker OM, Trachet B, Segers P, Leroy BP, De Zaeytijd J, Voet D, De Paepe A, De Backer T, De Backer J (2013) Characterization of cardiovascular involvement in pseudoxanthoma elasticum families. Arterioscler Thromb Vasc Biol 33(11):2646PubMed Campens L, Vanakker OM, Trachet B, Segers P, Leroy BP, De Zaeytijd J, Voet D, De Paepe A, De Backer T, De Backer J (2013) Characterization of cardiovascular involvement in pseudoxanthoma elasticum families. Arterioscler Thromb Vasc Biol 33(11):2646PubMed
100.
Zurück zum Zitat Li D, Ryu E, Saeidian AH, Youssefian L, Oliphant E, Terry SF, Tong PL, Uitto J, Haass NK, Li Q (2021) GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype. Br J Dermatol 184(6):1170–1174PubMed Li D, Ryu E, Saeidian AH, Youssefian L, Oliphant E, Terry SF, Tong PL, Uitto J, Haass NK, Li Q (2021) GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa-like phenotype. Br J Dermatol 184(6):1170–1174PubMed
101.
Zurück zum Zitat Malfait F, Wenstrup RJ, De Paepe A (2010) Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med 12(10):597–605PubMed Malfait F, Wenstrup RJ, De Paepe A (2010) Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med 12(10):597–605PubMed
102.
Zurück zum Zitat Inamadar AC, Palit A (2004) Cutaneous signs in heritable disorders of the connective tissue. Indian J Dermatol Venereol Leprol 70(4):253–255PubMed Inamadar AC, Palit A (2004) Cutaneous signs in heritable disorders of the connective tissue. Indian J Dermatol Venereol Leprol 70(4):253–255PubMed
103.
Zurück zum Zitat Oshima J, Sidorova JM, Monnat RJ Jr. (2017) Werner syndrome: clinical features, pathogenesis and potential therapeutic interventions. Ageing Res Rev 33:105PubMed Oshima J, Sidorova JM, Monnat RJ Jr. (2017) Werner syndrome: clinical features, pathogenesis and potential therapeutic interventions. Ageing Res Rev 33:105PubMed
104.
Zurück zum Zitat Kubota Y, Takemoto M, Taniguchi T, Motegi SI, Taniguchi A, Nakagami H, Maezawa Y, Koshizaka M, Kato H, Mori S, Tsukamoto K, Kuzuya M, Yokote K (2021) Management guideline for Werner syndrome 2020. 6. Skin ulcers associated with Werner syndrome: prevention and non-surgical and surgical treatment. Geriatr Gerontol Int 21(2):153PubMed Kubota Y, Takemoto M, Taniguchi T, Motegi SI, Taniguchi A, Nakagami H, Maezawa Y, Koshizaka M, Kato H, Mori S, Tsukamoto K, Kuzuya M, Yokote K (2021) Management guideline for Werner syndrome 2020. 6. Skin ulcers associated with Werner syndrome: prevention and non-surgical and surgical treatment. Geriatr Gerontol Int 21(2):153PubMed
105.
Zurück zum Zitat Levine MA (2012) An update on the clinical and molecular characteristics of pseudohypoparathyroidism. Curr Opin Endocrinol Diabetes Obes 19(6):443–451PubMedPubMedCentral Levine MA (2012) An update on the clinical and molecular characteristics of pseudohypoparathyroidism. Curr Opin Endocrinol Diabetes Obes 19(6):443–451PubMedPubMedCentral
106.
Zurück zum Zitat Jeong KH, Lew BL, Sim WY (2009) Osteoma cutis as the presenting feature of Albright hereditary osteodystrophy associated with pseudopseudohypoparathyroidism. Ann Dermatol 21(2):154–158PubMedPubMedCentral Jeong KH, Lew BL, Sim WY (2009) Osteoma cutis as the presenting feature of Albright hereditary osteodystrophy associated with pseudopseudohypoparathyroidism. Ann Dermatol 21(2):154–158PubMedPubMedCentral
107.
Zurück zum Zitat Pignolo RJ, Shore EM, Kaplan FS (2011) Fibrodysplasia ossificans progressiva: clinical and genetic aspects. Orphanet J Rare Dis 6:80PubMedPubMedCentral Pignolo RJ, Shore EM, Kaplan FS (2011) Fibrodysplasia ossificans progressiva: clinical and genetic aspects. Orphanet J Rare Dis 6:80PubMedPubMedCentral
108.
Zurück zum Zitat Kaplan FS, Shore EM (2000) Progressive osseous heteroplasia. J Bone Miner Res 15(11):2084–2094PubMed Kaplan FS, Shore EM (2000) Progressive osseous heteroplasia. J Bone Miner Res 15(11):2084–2094PubMed
109.
Zurück zum Zitat Eliason MJ, Leachman SA, Feng BJ, Schwartz ME, Hansen CD (2012) A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. J Am Acad Dermatol 67(4):680PubMed Eliason MJ, Leachman SA, Feng BJ, Schwartz ME, Hansen CD (2012) A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. J Am Acad Dermatol 67(4):680PubMed
110.
Zurück zum Zitat Wilson NJ, O’Toole EA, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E, Schwartz ME, McLean WH, Sprecher E, Smith FJ (2014) The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol 171(2):343PubMedPubMedCentral Wilson NJ, O’Toole EA, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E, Schwartz ME, McLean WH, Sprecher E, Smith FJ (2014) The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol 171(2):343PubMedPubMedCentral
111.
Zurück zum Zitat Kaspar RL (2005) Challenges in developing therapies for rare diseases including pachyonychia congenita. J Investig Dermatol Symp Proc 10(1):62PubMed Kaspar RL (2005) Challenges in developing therapies for rare diseases including pachyonychia congenita. J Investig Dermatol Symp Proc 10(1):62PubMed
112.
Zurück zum Zitat Wallis T, Poole CD, Hoggart B (2016) Can skin disease cause neuropathic pain? A study in pachyonychia congenita. Clin Exp Dermatol 41(1):26PubMed Wallis T, Poole CD, Hoggart B (2016) Can skin disease cause neuropathic pain? A study in pachyonychia congenita. Clin Exp Dermatol 41(1):26PubMed
113.
Zurück zum Zitat Ofaiche J, Duchatelet S, Fraitag S, Nassif A, Nougué J, Hovnanian A (2014) Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17. Br J Dermatol 171(6):1565PubMed Ofaiche J, Duchatelet S, Fraitag S, Nassif A, Nougué J, Hovnanian A (2014) Familial pachyonychia congenita with steatocystoma multiplex and multiple abscesses of the scalp due to the p.Asn92Ser mutation in keratin 17. Br J Dermatol 171(6):1565PubMed
Metadaten
Titel
Gutartige nichtmelanozytäre Hauttumoren bei Syndromen
verfasst von
George-Sorin Tiplica
Klaus Fritz
Alexandra Irina Butacu
Loredana Ungureanu
Carmen Maria Sălăvăstru
Publikationsdatum
25.01.2022
Verlag
Springer Medizin
Erschienen in
Die Dermatologie / Ausgabe 2/2022
Print ISSN: 2731-7005
Elektronische ISSN: 2731-7013
DOI
https://doi.org/10.1007/s00105-022-04947-0

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