Focal dermal hypoplasia

Synonym(s)

Goltz's syndrome, Goltz syndrome Definition

Genetic disorder characterized by distinctive skin abnormalities and a wide variety of defects affecting the eyes, teeth, and skeletal, urinary, gastrointestinal, cardiovascular, and central nervous system

Pathogenesis

X-linked dominant, typically lethal in males; mosaicism with random X-chromo-some inactivation (lyonization) likely; profound dysplasia of ectodermal, neuroecto-dermal, endodermal, and mesodermal elements

Clinical manifestation

Present at birth, almost exclusively in females; skin findings - symmetric, linear, reticulated, frequently tender, pink or red, thin skin; involved areas angular, atrophic, slightly raised, or depressed macules, with telangiectasias; lesions follow the lines of Blaschko; prominent involvement on the lower extremities, forearms, and cheeks; hernia-like outpouchings of fatty tissue; multiple raspberry-like papillomas arising at junctions between the mucosa and the skin (i.e. perioral, perivulvar, perianal, peri-ocular junctions); apocrine nevi; multiple hydrocystomas; hypohidrosis; scalp and body hair usually sparse; hair sometimes brittle; dysmorphic facial features; other abnormalities, include short stature, skeletal abnormalities, mental retardation, dys-morphic ears, and ocular abnormalities

Differential diagnosis

Aicardi syndrome; incontinentia pigmenti; proteus syndrome; MIDAS syndrome; aplasia cutis congenita; Adams-Oliver syndrome

Therapy

Flashlamp-pumped pulse dye laser for telangiectatic and erythematous skin lesions

References

Hardman CM, Garioch JJ, Eady RA, Fry L (1998) Focal dermal hypoplasia: report of a case with cutaneous and skeletal manifestations. Clinical & Experimental Dermatology 23(6):28i-285

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