Catalog

Hereditary sclerosing poikiloderma with tendon and pulmonary involvement

No MMS code

Link to WHO Definition

Hereditary sclerosing poikiloderma with tendon and pulmonary involvement – http://id.who.int/icd/entity/1585528459

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).