Berlin syndrome - Altmeyers Encyclopedia

Synonym(s)

Congenital generalized melanoleukoderma; ectodermal dysplasia Berlin type; Melanoleukoderma congenital generalized

History
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Berlin, 1961

Definition
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Extremely rare congenital ectodermal dysplasia with reduced hairiness, dry atrophic skin with patchy hyperpigmentation, palmoplantar keratoses.

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Dermatology

Naevus spilus, a light brown large pigmentation spot with splashes of dark pigmentation that has ...

Nevus spilus

A sharply defined, irregularly shaped, usually lentil- to palm-sized, milk-coffee-brown spot with small bro...

Clinical features
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Skin changes: Hyperpigmentation of the extremities with small spots (so-called leopard skin), tendency to atrophic scarring. Anetodermia, poikiloderma. Palmoplantar keratoses with hyperhidrosis. Teleangiectasia of the lips. Lack of lanugo hair, underdeveloped sebaceous gland apparatus in the area of the hairy head.
Extracutaneous manifestations: delayed tooth growth, short stature, stilt-shaped legs, mental retardation, hypogonadism in male patients.

Differential diagnosis
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Progeria adultorum; Progeria-like syndrome; Rothmund syndrome; Thomson syndrome; dyskeratosis congenita; anhidrotic ectodermal dysplasia; Incontinentia pigmenti, Bloch-Sulzberger type; Incontinentia pigmenti, Franceschetti-Jadassohn type; Ehlers-Danlos syndrome, Schäfer syndrome.

Therapy
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Caring and refatting ointments (e.g. linola grease), covering creams or pastes can provide visual help. Keratotic changes can be treated with urea-containing or salicylic acid-containing ointments or oils.

Literature
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Berlin CI (1961) Congenital generalized melanoleucoderma associated with hypodontia, hypotrichosis, stunted growth and mental retardation occurring in two brothers and two sisters. dermatologica 123: 227-243