Chicago Dermatological Society

Zeisler, Erwin P.

doi:10.1001/archderm.1926.02370170087012

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1987

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Cited by 38 publications

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Dyskeratosis congenita with linear areas of severe cutaneous involvement

et al. 1998

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Dyskeratosis congenita (DC) is a rare hereditary disorder of skin which may be associated with aplastic anemia. The pattern of inheritance is X-linked recessive in most instances, but autosomal dominant and autosomal recessive types have been documented. Reticulated hyperpigmentation usually is the first manifestation. The pigmentary changes may be limited to neck, upper chest, and proximal parts of the limbs initially but within affected areas the involvement is always diffuse. We report on a patient with typical diffuse cutaneous signs of dyskeratosis congenita superimposed with hyperpigmentation that was more pronounced along Blaschko's lines. To explain this phenomenon, we assume that the patient has the autosomal dominant type and that loss of heterozygosity occurred in a somatic cell giving rise to a population of cells that migrated along these lines during embryogenesis.

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Dyskeratosis congenita with linear areas of severe cutaneous involvement

et al. 1998

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Congenital Epidermal Hypermelanoses

Mallory¹,

Chern²,

Foley³

2006

The Pigmentary System

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Fanconi anemia, dyskeratosis congenita, and WT syndrome

Shahidi

Opitz²,

Bernstein³

1987

Am. J. Med. Genet.

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The association of congenital anomalies and pancytopenia is encountered in several clinical syndromes. Among these, Fanconi anemia is by far the most prevalent, and consequently best known. As a result, other similar conditions, such as dyskeratosis congenita and particularly WT syndrome, are often mistaken for Fanconi anemia. However, at a closer look, the type of congenital anomalies, the mode of inheritance, cytogenic and other laboratory findings allow clear differentiation between these 3 syndromes.

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Chicago Dermatological Society

Cited by 38 publications

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Dyskeratosis congenita with linear areas of severe cutaneous involvement

Dyskeratosis congenita with linear areas of severe cutaneous involvement

Congenital Epidermal Hypermelanoses

Fanconi anemia, dyskeratosis congenita, and WT syndrome

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