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- Title
Lentiginosis and café‐au‐lait macules as part of the phenotypic spectrum of PAX3‐related disorders.
- Authors
Morice‐Picard, F.; Letertre, O.; Lasseaux, E.; Cario‐Andre, M.; Arveiler, B.; Taieb, A.
- Abstract
Waardenburg syndrome (WS) is characterized by hypopigmentation of the hair and skin, congenital sensorineural hearing and various defects of neural crest-derived tissues. The patients with I PAX3 i mutations described here presented with café-au-lait macules and lentigines rather than large hypopigmented areas. In WS, café-au-lait macules have been reported only in patients with WS Type 2 associated with I KITLG i mutations, not in patients with I PAX3 i mutations.[5] I KITLG i mutations are also responsible for FPHH, which is mainly characterized by diffuse hyperpigmentation, including variable lentiginosis and café-au-lait macules.[6] The lesions increase in size and number with age.
- Subjects
LENTIGO; HEARING disorders; PIGMENTATION disorders; DISEASES; RETENTION of urine
- Publication
Clinical & Experimental Dermatology, 2020, Vol 45, Issue 5, p621
- ISSN
0307-6938
- Publication type
Article
- DOI
10.1111/ced.14203