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Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation.
BMC Dermatol. 2016 Mar 10; 16:3.BD

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.

Authors+Show Affiliations

Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, DK-5000, Odense, Denmark. anne.kroeigaard@rsyd.dk. Department of Clinical Pathology, Odense University Hospital, Odense, Denmark. anne.kroeigaard@rsyd.dk.Department of Clinical Pathology, Odense University Hospital, Odense, Denmark.Department of Maxillofacial Surgery, Center for Oral Health in Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, DK-5000, Odense, Denmark. Department of Clinical Research, University of Southern Denmark, Odense, Denmark.Department of Clinical Research, University of Southern Denmark, Odense, Denmark. Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26964878

Citation

Krøigård, Anne Bruun, et al. "Odonto-onycho-dermal Dysplasia in a Patient Homozygous for a WNT10A Nonsense Mutation and Mild Manifestations of Ectodermal Dysplasia in Carriers of the Mutation." BMC Dermatology, vol. 16, 2016, p. 3.
Krøigård AB, Clemmensen O, Gjørup H, et al. Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation. BMC Dermatol. 2016;16:3.
Krøigård, A. B., Clemmensen, O., Gjørup, H., Hertz, J. M., & Bygum, A. (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. BMC Dermatology, 16, 3. https://doi.org/10.1186/s12895-016-0040-7
Krøigård AB, et al. Odonto-onycho-dermal Dysplasia in a Patient Homozygous for a WNT10A Nonsense Mutation and Mild Manifestations of Ectodermal Dysplasia in Carriers of the Mutation. BMC Dermatol. 2016 Mar 10;16:3. PubMed PMID: 26964878.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation. AU - Krøigård,Anne Bruun, AU - Clemmensen,Ole, AU - Gjørup,Hans, AU - Hertz,Jens Michael, AU - Bygum,Anette, Y1 - 2016/03/10/ PY - 2015/11/19/received PY - 2016/03/04/accepted PY - 2016/3/12/entrez PY - 2016/3/12/pubmed PY - 2016/10/13/medline KW - Ectodermal dysplasia KW - OODD KW - Odonto-onycho-dermal dysplasia KW - Oligodontia KW - WNT10A gene SP - 3 EP - 3 JF - BMC dermatology JO - BMC Dermatol VL - 16 N2 - 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. SN - 1471-5945 UR - https://wwww.unboundmedicine.com/medline/citation/26964878/Odonto_onycho_dermal_dysplasia_in_a_patient_homozygous_for_a_WNT10A_nonsense_mutation_and_mild_manifestations_of_ectodermal_dysplasia_in_carriers_of_the_mutation_ L2 - https://bmcdermatol.biomedcentral.com/articles/10.1186/s12895-016-0040-7 DB - PRIME DP - Unbound Medicine ER -