Which recessively inherited diseases have skin findings and associated internal malignancy? |
Table 35-2. Recessively Inherited Diseases with Skin Findings and Malignancy | |||||||||
DISORDER | INHERITANCE | CLINICAL FINDINGS | CANCER | AFFECTED GENE | |||||
Wiskott-Aldrich syndrome | X-linked recessive | Chronic dermatitis Thrombocytopenia Recurrent infections | Lymphoma, especially non-Hodgkin’s | WAS | |||||
Bloom’s syndrome | Autosomal recessive | Photosensitivity Telangiectasia of sun-exposed skin Short stature Decreased serum immunoglobulins Recurrent infections Sister chromatid exchange | Lymphomas Leukemias | RecQ3 | |||||
Ataxia-telangiectasia (Louis-Bar syndrome) | Autosomal recessive | Progressive cerebellar ataxia Telangiectasia Recurrent sinus and pulmonary infections Decreased/absent serum IgA | Lymphomas (increased cancer risk also seen in heterozygotes) | ATM | |||||
Dyskeratosis congenita | X-linked recessive Autosomal dominant | Skin atrophy and hyperpigmentation Nail dystrophy Oral precancerous leukokeratosis | Oral cancers Other malignancies | DKC1 TERC | |||||
WAS, Wiskott-Aldrich syndrome; RecQ3, DNA helicase Rec Q protein-like-3; ATM, ataxia telangiectasia mutated; DKC1, dyskerin; TERC, telomerase RNA component. |
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