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Hereditary sclerosing poikiloderma in Child
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Hereditary sclerosing poikiloderma in Child

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Contributors: Ailia Ali MD, Susan Burgin MD
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Synopsis

Hereditary sclerosing poikiloderma (HSP) is an extremely rare autosomal dominant disorder comprising generalized poikiloderma, sclerosis of palms and soles, linear and reticulated hyperkeratotic and sclerotic bands, and digital clubbing. HSP likely arises secondary to a de novo mutation, has variable penetrance, and is noted to be more severe in males. No mechanism leading to the characteristic clinical and histological changes has been identified. HSP has been observed in individuals of African, European, and Korean descent. Characteristic changes are absent at birth and appear early in childhood (usually between ages 2 and 4) with progressive poikiloderma. Sclerosis of the palms and soles appears later. One patient manifested subcutaneous calcification. Cardiac valvular abnormalities, including calcific changes, have been reported in some cases.

For more information, see OMIM.

Codes

ICD10CM:
L81.8 – Other specified disorders of pigmentation

SNOMEDCT:
238834002 – Hereditary Sclerosing Poikiloderma

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Mandibuloacral dysplasia – Will have presence of mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, and acroosteolysis.
  • Rothmund-Thomson syndrome (poikiloderma congenitale) – Autosomal recessive inheritance; poikiloderma occurring at sun-exposed areas with associated partial alopecia, cataract formation, photosensitivity with keratoses formation, hypogonadism, and small stature.
  • Hereditary fibrosing poikiloderma with tendon contracture, myopathy and pulmonary fibrosis (POIKTMP) – Autosomal dominant; mutations in FAM111B gene.
  • Hereditary acrokeratotic poikiloderma – Characterized by progression from vesiculobullous formation in infancy to eczematous changes in childhood to widespread poikiloderma with acral keratotic papules.
  • Dyskeratosis congenita – Inheritance is either autosomal or sex-linked recessive. Can differentiate from HSP by distinct atrophic and dystrophic nail changes and leukoplakic / leukokeratotic changes to mucosal surfaces.
  • Werner syndrome – This will not have true widespread poikiloderma and presents usually in third or fourth decade.
  • Poikilodermatous dermatomyositis – This will have muscle weakness, periorbital edema, and a strong family history.
  • Dyschromatosis universalis hereditaria – Found solely in individuals of Japanese ancestry; dyschromia rather than true poikiloderma.
  • Scleroderma – Less likely to occur in multiple members of the same family and will have positive autoantibody testing.
  • Poikiloderma vasculare atrophicans (poikilodermatous mycosis fungoides) – This disorder is sporadic, no familial pattern, appears later in life, and spares distal extremities.
  • Xeroderma pigmentosa – Poikiloderma is mostly limited to sun-exposed areas.

Best Tests

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Therapy

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References

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Last Reviewed: 04/05/2018
Last Updated: 04/20/2018
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Hereditary sclerosing poikiloderma in Child
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Hereditary sclerosing poikiloderma : Antecubital fossa, Atrophy, Axilla, Hyperpigmented patch, Linear configuration, Popliteal fossa, Reticular configuration, Thickened skin
Clinical image of Hereditary sclerosing poikiloderma
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