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October 1984

Dyskeratosis Congenita With Macular Cutaneous Amyloid Deposits

Author Affiliations

From the Departments of Dermatology (Drs Llistosella and de Moragas) and Pathology (Dr Moreno), Hospital of St Pau, Autonomous University of Barcelona, Spain.

Arch Dermatol. 1984;120(10):1381-1382. doi:10.1001/archderm.1984.01650460121034

Dyskeratosis congenita is a genodermatosis with systemic manifestations. About 75 cases have been reported to date. The disease is characterized by a triad of clinical findings: reticulated pigmentation of the skin, nail dystrophy, and leukoplakia of the mucous membranes.1-5

Sirinavin and Trowbridge1 reviewed the literature and summarized the associated disease manifestations. The most frequent of these were pancytopenia4,5 and malignant neoplasm.1,2

We report a kindred (Fig 1) with dyskeratosis congenita having two affected male members and one affected female member. The woman also had cutaneous macular amyloidosis. To our knowledge, this association has not been reported previously.

Report of a Case  A 42-year-old woman was seen in our department for an ulcerated lesion on the nose. Medical history included a macular hyperpigmentation on the neck, present since the age of 8 years. At age 20 years, the hyperpigmentation had extended to involve the trunk, arms, and

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