Dyskeratosis Congenita with Pigmentation, Dystrophia Unguium, and Leukoplakia Oris
1958; American Medical Association; Volume: 77; Issue: 6 Linguagem: Inglês
10.1001/archderm.1958.01560060070012
ISSN2375-6772
Autores Tópico(s)melanin and skin pigmentation
ResumoA previous publication1dealt with two Jewish-American brothers, aged 25 and 21, Cases 1 and 2, who had in common the main features of the very rare syndrome dyskeratosis congenita with pigmentation, dystrophia unguium, and leukoplakia oris. This paper completes their interesting and tragic life histories. Review of Case 1 When the patient was 5 years of age, blisters appeared at the sides of the tongue. These healed after medication but recurred yearly. Sores later developed on the inside of the mouth and gums. Attacks of dysphagia occurred when the patient was 8 years old, due to narrowing of the esophageal orifice. At the age of 11 the teeth began to soften, to crumble, and gradually to decay. The trunk and extremities revealed pigmentary changes. At the age of 12 the nails of the hands became dystrophic, shriveled, and shrunken. The skin was dry except for the palms
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