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Haber syndrome
Other Resources UpToDate PubMed

Haber syndrome

Contributors: Raj Singh, Casey P. Schukow DO, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Haber syndrome is an extremely rarely reported, autosomal-dominant genodermatosis characterized by an early-onset, persistent, photosensitive, rosacea-like facial eruption and multiple dark brown, seborrheic keratosis-like papules affecting the flexures and intertriginous areas, and the trunk more diffusely in more severe cases.

The few reports of Haber syndrome have been noted worldwide, primarily affecting those of Asian and Middle Eastern descent.

Further clinical findings that are inconsistently reported include small facial pitted scars, prominent follicular openings, reticulate pigmentation, and palmoplantar keratoderma. While some authors have postulated that Haber syndrome is a variant of Dowling-Degos disease, few genetic studies have been performed on reported cases, and no KRT5 (keratin 5), POGLUT1 (protein O-glucosyltransferase 1), POFUT1 (protein O-fucosyltransferase 1), or PSENEN (presenilin enhancer protein 2) mutations (as seen in Dowling-Degos disease) have been found to date.

Codes

ICD10CM:
L73.8 – Other specified follicular disorders

SNOMEDCT:
69971003 – Haber's syndrome

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Last Reviewed:08/26/2023
Last Updated:08/27/2023
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Haber syndrome
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A medical illustration showing key findings of Haber syndrome
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