Abstract
BackgroundGoltz syndrome or focal dermal hypoplasia (FDH) is an uncommon multisystem disorder. Herein, we report a typical case of FDH with unilateral ocular, cutaneous and skeletal features.Case Presentationa 4-year-old girl presented with microphthalmos and iris coloboma of the left eye, facial asymmetry, and a low-set protruding ear. Cutaneous changes included hypopigmented atrophic macules on the left side of the face, chest, abdomen and limbs. Characteristic lobster claw deformity of left hand and oligodactyly and syndactyly of left foot were present.ConclusionsFDH usually affects both sides of the body. This case represents the unusual unilateral manifestation of the syndrome.
Highlights
Goltz syndrome or focal dermal hypoplasia (FDH) is an uncommon multisystem disorder
FDH usually affects both sides of the body
Focal dermal hypoplasia (Goltz syndrome) is a rare genetic disorder characterized by distinctive skin abnormalities and a wide variety of defects that affect the eyes; teeth; and skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems
Summary
Focal dermal hypoplasia (Goltz syndrome) is a rare genetic disorder characterized by distinctive skin abnormalities and a wide variety of defects that affect the eyes; teeth; and skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. It is usually X-linked dominant with in utero lethality in males [1]. We report a 4-year-old girl with typical features of Goltz syndrome affecting only the left side of the body. Her growth and developmental achievements were satisfactory. On examination, both eyes had simple infectious conjunctivitis.
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