Skip to main content
Erschienen in: Der Deutsche Dermatologe 1/2019

01.01.2019 | Genodermatosen | Fortbildung

Genodermatosen

Revolutionäre pränatale Therapie

verfasst von: Prof. Dr. med. Jorge Frank

Erschienen in: Deutsche Dermatologie | Ausgabe 1/2019

Einloggen, um Zugang zu erhalten

Zusammenfassung

Die Therapie von Genodermatosen ist schwierig und in der Regel rein symptomatisch. Hoffnung gibt es nun bei der hypohidrotischen ektodermalen Dysplasie in Form einer neuen kurativen intrauterinen Behandlung.
Literatur
1.
Zurück zum Zitat Tantcheva-Poor I, Oji V, Has C. Ein mehrstufiger Algorithmus zur Diagnose seltener Genodermatosen. J Dtsch Dermatol Ges 2016; 14(10): 969–87PubMed Tantcheva-Poor I, Oji V, Has C. Ein mehrstufiger Algorithmus zur Diagnose seltener Genodermatosen. J Dtsch Dermatol Ges 2016; 14(10): 969–87PubMed
2.
Zurück zum Zitat Lemke JR, Kernland-Lang K, Hortnagel K, Itin P. Monogenic human skin disorders. Dermatology 2014; 229(2): 55–64CrossRef Lemke JR, Kernland-Lang K, Hortnagel K, Itin P. Monogenic human skin disorders. Dermatology 2014; 229(2): 55–64CrossRef
3.
Zurück zum Zitat Frank J. Hereditäre Hauterkrankungen — Klinisch und genetisch heterogen. J Dtsch Dermatol Ges 2017; 15(9): 881–2CrossRef Frank J. Hereditäre Hauterkrankungen — Klinisch und genetisch heterogen. J Dtsch Dermatol Ges 2017; 15(9): 881–2CrossRef
4.
Zurück zum Zitat Schaffer JV. Practice and Educational Gaps in Genodermatoses. Dermatol Clin 2016; 34(3): 303–10CrossRef Schaffer JV. Practice and Educational Gaps in Genodermatoses. Dermatol Clin 2016; 34(3): 303–10CrossRef
5.
Zurück zum Zitat Has C, Sitaru C. Molecular dermatology comes of age. Methods Mol Biol 2013; 961: 1–16CrossRef Has C, Sitaru C. Molecular dermatology comes of age. Methods Mol Biol 2013; 961: 1–16CrossRef
6.
Zurück zum Zitat Küster W, Hennies HC, Happle R. Kartierung und molekulare Analyse erblicher Hautkrankheiten — Stand der Forschung. Hautarzt 2000; 51(12): 906–14CrossRef Küster W, Hennies HC, Happle R. Kartierung und molekulare Analyse erblicher Hautkrankheiten — Stand der Forschung. Hautarzt 2000; 51(12): 906–14CrossRef
7.
Zurück zum Zitat Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders. Nucleic Acids Res 2015; 43 (Database issue): D789–98CrossRef Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders. Nucleic Acids Res 2015; 43 (Database issue): D789–98CrossRef
8.
Zurück zum Zitat Bruckner-Tuderman L, Traupe H, Krieg T. [The situation of rare skin diseases in Germany]. Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz 2007; 50(12): 1541–7 Bruckner-Tuderman L, Traupe H, Krieg T. [The situation of rare skin diseases in Germany]. Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz 2007; 50(12): 1541–7
9.
Zurück zum Zitat Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, Heagerty A, Hintner H, Hovnanian A, Jonkman MF et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol 2014; 70(6): 1103–26CrossRef Fine JD, Bruckner-Tuderman L, Eady RA, Bauer EA, Bauer JW, Has C, Heagerty A, Hintner H, Hovnanian A, Jonkman MF et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol 2014; 70(6): 1103–26CrossRef
10.
Zurück zum Zitat McGrath JA. The Molecular Revolution in Cutaneous Biology: Era of Molecular Diagnostics for Inherited Skin Diseases. J Invest Dermatol 2017; 137(5): e83–e6CrossRef McGrath JA. The Molecular Revolution in Cutaneous Biology: Era of Molecular Diagnostics for Inherited Skin Diseases. J Invest Dermatol 2017; 137(5): e83–e6CrossRef
11.
Zurück zum Zitat Schaffer JV. Molecular diagnostics in genodermatoses. Semin Cutan Med Surg 2012; 31(4): 211–20CrossRef Schaffer JV. Molecular diagnostics in genodermatoses. Semin Cutan Med Surg 2012; 31(4): 211–20CrossRef
12.
Zurück zum Zitat Has C, Technau-Hafsi K. Palmoplantar keratodermas: clinical and genetic aspects. J Dtsch Dermatol Ges 2016; 14(2): 123–39; quiz 40PubMed Has C, Technau-Hafsi K. Palmoplantar keratodermas: clinical and genetic aspects. J Dtsch Dermatol Ges 2016; 14(2): 123–39; quiz 40PubMed
13.
Zurück zum Zitat Samuelov L, Sprecher E. Inherited desmosomal disorders. Cell Tissue Res 2015; 360(3): 457–75CrossRef Samuelov L, Sprecher E. Inherited desmosomal disorders. Cell Tissue Res 2015; 360(3): 457–75CrossRef
14.
Zurück zum Zitat Bolling MC, Jonkman MF. Skin and heart: une liaison dangereuse. Exp Dermatol 2009; 18(8): 658–68CrossRef Bolling MC, Jonkman MF. Skin and heart: une liaison dangereuse. Exp Dermatol 2009; 18(8): 658–68CrossRef
15.
Zurück zum Zitat Giehl KA, Eckstein GN, Pasternack SM, Praetzel-Wunder S, Ruzicka T, Lichtner P, Seidl K, Rogers M, Graf E, Langbein L et al. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Am J Hum Genet 2012; 91(4): 754–9CrossRef Giehl KA, Eckstein GN, Pasternack SM, Praetzel-Wunder S, Ruzicka T, Lichtner P, Seidl K, Rogers M, Graf E, Langbein L et al. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Am J Hum Genet 2012; 91(4): 754–9CrossRef
16.
Zurück zum Zitat McGrath JA. Hereditary diseases of desmosomes. J Dermatol Sci 1999; 20(2): 85–91CrossRef McGrath JA. Hereditary diseases of desmosomes. J Dermatol Sci 1999; 20(2): 85–91CrossRef
17.
Zurück zum Zitat Chidgey M. Desmosomes and disease: an update. Histol Histopathol 2002; 17(4): 1179–92PubMed Chidgey M. Desmosomes and disease: an update. Histol Histopathol 2002; 17(4): 1179–92PubMed
18.
Zurück zum Zitat Kowalczyk AP, Navarro P, Dejana E, Bornslaeger EA, Green KJ, Kopp DS, Borgwardt JE. VE-cadherin and desmoplakin are assembled into dermal microvascular endothelial intercellular junctions: a pivotal role for plakoglobin in the recruitment of desmoplakin to intercellular junctions. J Cell Sci 1998; 111 (Pt 20): 3045–57PubMed Kowalczyk AP, Navarro P, Dejana E, Bornslaeger EA, Green KJ, Kopp DS, Borgwardt JE. VE-cadherin and desmoplakin are assembled into dermal microvascular endothelial intercellular junctions: a pivotal role for plakoglobin in the recruitment of desmoplakin to intercellular junctions. J Cell Sci 1998; 111 (Pt 20): 3045–57PubMed
19.
Zurück zum Zitat Zhou X, Stuart A, Dettin LE, Rodriguez G, Hoel B, Gallicano GI. Desmoplakin is required for microvascular tube formation in culture. J Cell Sci 2004; 117(Pt 15): 3129–40CrossRef Zhou X, Stuart A, Dettin LE, Rodriguez G, Hoel B, Gallicano GI. Desmoplakin is required for microvascular tube formation in culture. J Cell Sci 2004; 117(Pt 15): 3129–40CrossRef
20.
Zurück zum Zitat Getsios S, Huen AC, Green KJ. Working out the strength and flexibility of desmosomes. Nat Rev Mol Cell Biol 2004; 5(4): 271–81CrossRef Getsios S, Huen AC, Green KJ. Working out the strength and flexibility of desmosomes. Nat Rev Mol Cell Biol 2004; 5(4): 271–81CrossRef
21.
Zurück zum Zitat Celentano A, Mignogna MD, McCullough M, Cirillo N. Pathophysiology of the Desmo-Adhesome. J Cell Physiol 2017; 232(3): 496–505CrossRef Celentano A, Mignogna MD, McCullough M, Cirillo N. Pathophysiology of the Desmo-Adhesome. J Cell Physiol 2017; 232(3): 496–505CrossRef
22.
Zurück zum Zitat Taiber S, Samuelov L, Mohamad J, Barak EC, Sarig O, Shalev SA, Lestringant G, Sprecher E. SAM syndrome is characterized by extensive phenotypic heterogeneity. Exp Dermatol 2018; 27(7): 787–90CrossRef Taiber S, Samuelov L, Mohamad J, Barak EC, Sarig O, Shalev SA, Lestringant G, Sprecher E. SAM syndrome is characterized by extensive phenotypic heterogeneity. Exp Dermatol 2018; 27(7): 787–90CrossRef
23.
Zurück zum Zitat Ishida-Yamamoto A, Igawa S. Genetic skin diseases related to desmosomes and corneodesmosomes. J Dermatol Sci 2014; 74(2): 99–105CrossRef Ishida-Yamamoto A, Igawa S. Genetic skin diseases related to desmosomes and corneodesmosomes. J Dermatol Sci 2014; 74(2): 99–105CrossRef
24.
Zurück zum Zitat Levy-Nissenbaum E, Betz RC, Frydman M, Simon M, Lahat H, Bakhan T, Goldman B, Bygum A, Pierick M, Hillmer AM et al. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet 2003; 34(2): 151–3 25.CrossRef Levy-Nissenbaum E, Betz RC, Frydman M, Simon M, Lahat H, Bakhan T, Goldman B, Bygum A, Pierick M, Hillmer AM et al. Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat Genet 2003; 34(2): 151–3 25.CrossRef
25.
Zurück zum Zitat Rickman L, Simrak D, Stevens HP, Hunt DM, King IA, Bryant SP, Eady RA, Leigh IM, Arnemann J, Magee AI et al. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 1999; 8(6): 971–6CrossRef Rickman L, Simrak D, Stevens HP, Hunt DM, King IA, Bryant SP, Eady RA, Leigh IM, Arnemann J, Magee AI et al. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 1999; 8(6): 971–6CrossRef
26.
Zurück zum Zitat Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R et al. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. Nat Genet 2013; 45(10): 1244–8CrossRef Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R et al. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. Nat Genet 2013; 45(10): 1244–8CrossRef
27.
Zurück zum Zitat McAleer MA, Pohler E, Smith FJ, Wilson NJ, Cole C, MacGowan S, Koetsier JL, Godsel LM, Harmon RM, Gruber R et al. Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin. J Allergy Clin Immunol 2015; 136(5): 1268–76CrossRef McAleer MA, Pohler E, Smith FJ, Wilson NJ, Cole C, MacGowan S, Koetsier JL, Godsel LM, Harmon RM, Gruber R et al. Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin. J Allergy Clin Immunol 2015; 136(5): 1268–76CrossRef
28.
Zurück zum Zitat Oji V, Eckl KM, Aufenvenne K, Natebus M, Tarinski T, Ackermann K, Seller N, Metze D, Nurnberg G, Folster-Holst R et al. Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet 2010; 87(2): 274–81CrossRef Oji V, Eckl KM, Aufenvenne K, Natebus M, Tarinski T, Ackermann K, Seller N, Metze D, Nurnberg G, Folster-Holst R et al. Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet 2010; 87(2): 274–81CrossRef
29.
Zurück zum Zitat Armstrong DK, McKenna KE, Purkis PE, Green KJ, Eady RA, Leigh IM, Hughes AE. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 1999; 8(1): 143–8CrossRef Armstrong DK, McKenna KE, Purkis PE, Green KJ, Eady RA, Leigh IM, Hughes AE. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet 1999; 8(1): 143–8CrossRef
30.
Zurück zum Zitat Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WH, Pulkkinen L, Uitto J, Christiano AM et al. Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol 2002; 118(2): 232–8CrossRef Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WH, Pulkkinen L, Uitto J, Christiano AM et al. Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol 2002; 118(2): 232–8CrossRef
31.
Zurück zum Zitat Simon M, Jonca N, Guerrin M, Haftek M, Bernard D, Caubet C, Egelrud T, Schmidt R, Serre G. Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation. J Biol Chem 2001; 276(23): 20292–9CrossRef Simon M, Jonca N, Guerrin M, Haftek M, Bernard D, Caubet C, Egelrud T, Schmidt R, Serre G. Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation. J Biol Chem 2001; 276(23): 20292–9CrossRef
32.
Zurück zum Zitat Oji V, Eckl KM, Aufenvenne K, Natebus M, Tarinski T, Ackermann K, Seller N, Metze D, Nurnberg G, Folster-Holst R et al. Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet 87(2): 274–81CrossRef Oji V, Eckl KM, Aufenvenne K, Natebus M, Tarinski T, Ackermann K, Seller N, Metze D, Nurnberg G, Folster-Holst R et al. Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet 87(2): 274–81CrossRef
33.
Zurück zum Zitat Reimer A, He Y, Has C. Update on Genetic Conditions Affecting the Skin and the Kidneys. Front Pediatr 2018; 6: 43CrossRef Reimer A, He Y, Has C. Update on Genetic Conditions Affecting the Skin and the Kidneys. Front Pediatr 2018; 6: 43CrossRef
34.
Zurück zum Zitat Schneider H, Faschingbauer F, Schuepbach-Mallepell S, Korber I, Wohlfart S, Dick A, Wahlbuhl M, Kowalczyk-Quintas C, Vigolo M, Kirby N et al. Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. N Engl J Med 2018; 378(17): 1604–10CrossRef Schneider H, Faschingbauer F, Schuepbach-Mallepell S, Korber I, Wohlfart S, Dick A, Wahlbuhl M, Kowalczyk-Quintas C, Vigolo M, Kirby N et al. Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. N Engl J Med 2018; 378(17): 1604–10CrossRef
35.
Zurück zum Zitat Visinoni AF, Lisboa-Costa T, Pagnan NA, Chautard-Freire-Maia EA. Ectodermal dysplasias: clinical and molecular review. Am J Med Genet A 2009; 149A(9): 1980–2002CrossRef Visinoni AF, Lisboa-Costa T, Pagnan NA, Chautard-Freire-Maia EA. Ectodermal dysplasias: clinical and molecular review. Am J Med Genet A 2009; 149A(9): 1980–2002CrossRef
36.
Zurück zum Zitat Irvine AD. Towards a unified classification of the ectodermal dysplasias: opportunities outweigh challenges. Am J Med Genet A 2009; 149A(9): 1970–2CrossRef Irvine AD. Towards a unified classification of the ectodermal dysplasias: opportunities outweigh challenges. Am J Med Genet A 2009; 149A(9): 1970–2CrossRef
37.
Zurück zum Zitat Mikkola ML. Molecular aspects of hypohidrotic ectodermal dysplasia. Am J Med Genet A 2009; 149A (9): 2031–6 Mikkola ML. Molecular aspects of hypohidrotic ectodermal dysplasia. Am J Med Genet A 2009; 149A (9): 2031–6
38.
Zurück zum Zitat Dietz J, Kaercher T, Schneider AT, Zimmermann T, Huttner K, Johnson R, Schneider H. Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia. Eur J Pediatr 2013; 172 (8): 1023–31 Dietz J, Kaercher T, Schneider AT, Zimmermann T, Huttner K, Johnson R, Schneider H. Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia. Eur J Pediatr 2013; 172 (8): 1023–31
39.
Zurück zum Zitat Hermes K, Schneider P, Krieg P, Dang A, Huttner K, Schneider H. Prenatal therapy in developmental disorders: drug targeting via intra-amniotic injection to treat X-linked hypohidrotic ectodermal dysplasia. J Invest Dermatol 2014; 134(12): 2985–7CrossRef Hermes K, Schneider P, Krieg P, Dang A, Huttner K, Schneider H. Prenatal therapy in developmental disorders: drug targeting via intra-amniotic injection to treat X-linked hypohidrotic ectodermal dysplasia. J Invest Dermatol 2014; 134(12): 2985–7CrossRef
40.
Zurück zum Zitat Amakye D, Jagani Z, Dorsch M. Unraveling the therapeutic potential of the Hedgehog pathway in cancer. Nat Med 2013; 19(11): 1410–22CrossRef Amakye D, Jagani Z, Dorsch M. Unraveling the therapeutic potential of the Hedgehog pathway in cancer. Nat Med 2013; 19(11): 1410–22CrossRef
Metadaten
Titel
Genodermatosen
Revolutionäre pränatale Therapie
verfasst von
Prof. Dr. med. Jorge Frank
Publikationsdatum
01.01.2019
Verlag
Springer Medizin
Schlagwort
Genodermatosen
Erschienen in
Deutsche Dermatologie / Ausgabe 1/2019
Print ISSN: 2731-7692
Elektronische ISSN: 2731-7706
DOI
https://doi.org/10.1007/s15011-019-2280-4

Weitere Artikel der Ausgabe 1/2019

Der Deutsche Dermatologe 1/2019 Zur Ausgabe

Leitlinien kompakt für die Dermatologie

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Update Dermatologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.