Hereditary sclerosing poikiloderma with tendon and pulmonary involvement (Q101666): Difference between revisions
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Nesta condição, relatada na África do Sul, a poiquilodermia esclerosante hereditária está associada a doença pulmonar que é potencialmente letal na idade adulta. As manifestações cutâneas que facilitam o diagnóstico incluem telangiectasias faciais, hipo e hiperpigmentação mosqueada, pápulas e atrofia epidérmica. Os cabelos, os pelos faciais e corporais são finos e escassos. As contraturas tendinosas levam a deformidades progressivas em flexão digital e a anormalidades dos tornozelos e pés, com distúrbio da marcha. O envolvimento pulmonar manifesta-se como dispneia progressiva. Os dados de linhagem são compatíveis com um modo de transmissão autossômico dominante (PMID: 17034542). | |||
| description / en | description / en | ||
In this condition, reported from South Africa, hereditary sclerosing poikiloderma is associated with pulmonary disease which is potentially lethal in adulthood. Skin manifestations which facilitate diagnosis include facial telangiectasia, mottled hypo- and hyperpigmentation, papules and epidermal atrophy. The scalp, facial and body hair are fine and scanty. The tendon contractures lead to progressive digital flexion deformities and abnormalities of the ankles and feet, with disturbance of gait. Pulmonary involvement manifests as progressive dyspnoea. Pedigree data are compatible with an autosomal dominant mode of transmission (PMID: 17034542). | |||
Revision as of 18:30, 16 August 2026
In this condition, reported from South Africa, hereditary sclerosing poikiloderma is associated with pulmonary disease which is potentially lethal in adulthood. Skin manifestations which facilitate diagnosis include facial telangiectasia, mottled hypo- and hyperpigmentation, papules and epidermal atrophy. The scalp, facial and body hair are fine and scanty. The tendon contractures lead to progressive digital flexion deformities and abnormalities of the ankles and feet, with disturbance of gait. Pulmonary involvement manifests as progressive dyspnoea. Pedigree data are compatible with an autosomal dominant mode of transmission (PMID: 17034542).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1585528459 |
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| English | Hereditary sclerosing poikiloderma with tendon and pulmonary involvement |
In this condition, reported from South Africa, hereditary sclerosing poikiloderma is associated with pulmonary disease which is potentially lethal in adulthood. Skin manifestations which facilitate diagnosis include facial telangiectasia, mottled hypo- and hyperpigmentation, papules and epidermal atrophy. The scalp, facial and body hair are fine and scanty. The tendon contractures lead to progressive digital flexion deformities and abnormalities of the ankles and feet, with disturbance of gait. Pulmonary involvement manifests as progressive dyspnoea. Pedigree data are compatible with an autosomal dominant mode of transmission (PMID: 17034542). |
