Skip to main content
main-content

01.12.2016 | Case report | Ausgabe 1/2016 Open Access

BMC Dermatology 1/2016

Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation

Zeitschrift:
BMC Dermatology > Ausgabe 1/2016
Autoren:
Anne Bruun Krøigård, Ole Clemmensen, Hans Gjørup, Jens Michael Hertz, Anette Bygum
Wichtige Hinweise

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

AB was the treating physician and performed the clinical evaluation. HG performed the dental evaluation and description. OC was the pathologist on the case and performed the histopathological examination of skin biopsies. ABK and JMH were responsible for genetic testing and genetic counselling. ABK wrote the manuscript. All authors read and approved the final manuscript.

Abstract

Background

Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles. The ectodermal dysplasias resulting from biallelic mutations in the WNT10A gene result in highly variable phenotypes, ranging from isolated tooth agenesis to OODD and Schöpf-Schulz-Passarge syndrome (SSPS).

Case presentation

We identified a female patient, with consanguineous parents, who was clinically diagnosed with OODD. Genetic testing showed that she was homozygous for a previously reported pathogenic mutation in the WNT10A gene, c.321C > A, p.Cys107*. The skin and nail abnormalities were for many years interpreted as psoriasis and treated accordingly. A thorough clinical examination revealed hypotrichosis and hyperhidrosis of the soles and dental examination revealed agenesis of permanent teeth except the two maxillary central incisors. Skin biopsies from the hyperkeratotic palms and soles showed the characteristic changes of eccrine syringofibroadenomatosis, which has been described in patients with ectodermal dysplasias. Together with a family history of tooth anomalies, this lead to the clinical suspicion of a hereditary ectodermal dysplasia.

Conclusion

This case illustrates the challenges of diagnosing ectodermal dysplasia like OODD and highlights the relevance of interdisciplinary cooperation in the diagnosis of rare conditions.
Literatur
Über diesen Artikel

Weitere Artikel der Ausgabe 1/2016

BMC Dermatology 1/2016 Zur Ausgabe

Neu im Fachgebiet Dermatologie

Mail Icon II Newsletter

Bestellen Sie unseren kostenlosen Newsletter Update Dermatologie und bleiben Sie gut informiert – ganz bequem per eMail.

Bildnachweise