Hereditary sclerosing poikiloderma in Adult
For more information, see OMIM.
L81.8 – Other specified disorders of pigmentation
238834002 – Hereditary Sclerosing Poikiloderma
- 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.
Last Updated: 04/20/2018