Setleis syndrome is a very rare genetic condition characterized by facial skin abnormalities and double upper eyelashes and missing lower eyelashes. It belongs to a group of diseases known as

ectodermal dysplasias Ectodermal dysplasia (ED) is a group of genetic syndromes all deriving from abnormalities of the ectodermal structures.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Sau ...

. Ectodermal dysplasias typically affect the hair, teeth, nails, and/or skin. Setleis syndrome is characterized by distinctive abnormalities of the facial area that may be apparent at birth ( congenital). Most affected infants have multiple, scar-like, circular depressions on both temples (bitemporal). These marks closely resemble those made when

forceps Forceps (plural forceps or considered a plural noun without a singular, often a pair of forceps; the Latin plural ''forcipes'' is no longer recorded in most dictionaries) are a handheld, hinged instrument used for grasping and holding objects. Fo ...

are used to assist delivery. The range and severity of symptoms may vary from case to case. Most cases of Setleis syndrome are thought to be inherited as an autosomal recessive genetic trait due to mutations in the

TWIST2 Twist-related protein 2 is a protein that in humans is encoded by the ''TWIST2'' gene. The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor and shares similarity with another bHLH transcription factor, TWIST1. ...

gene. The differential diagnosis of Setleis syndrome includes X-linked

focal dermal hypoplasia Focal dermal hypoplasia is a form of ectodermal dysplasia. It is a multisystem disorder characterized primarily by skin manifestations to the atrophic and hypoplastic areas of skin which are present at birth. These defects manifest as yellow-pink ...

, or

Goltz syndrome Goltz is a surname. Notable people with the surname include: *Bogumil Goltz (1801–1870), German humorist and satirist *Boris Goltz (1913–1942), Soviet composer * Christel Goltz (1912–2008), German operatic soprano * Dave Goltz (born 1949), ...

; a syndrome of focal dermal hypoplasia, morning glory anomaly, and polymicrogyria;

incontinentia pigmenti Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central nervous system. It is named from its appearance under a microscope. The disease is characterized by skin abnormalitie ...

;

oculocerebrocutaneous syndrome Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags. Presentation These include * Skin lesions ** Hypoplastic or aplastic skin defects ...

;

Rothmund–Thomson syndrome Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive skin condition. There have been several reported cases associated with osteosarcoma. A hereditary basis, mutations in the DNA helicase ''RECQL4'' gene, causing problems during initi ...

; and MLS (microphthalmia with linear skin defects) syndrome caused by deletions or point mutations in the HCCS gene.

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Conditions of the skin appendages Syndromes affecting the skin {{Dermatology-stub

See also

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