Ectodermal dysplasia-skin fragility syndrome

Ectodermal dysplasia-skin fragility syndrome (also known as McGrath syndrome or EDSS) is a rare inherited disorder caused by mutations in the PKP1 gene, which encodes plakophilin-1, a protein essential for cell-to-cell adhesion in the skin and its appendages. The condition belongs to the suprabasal forms of epidermolysis bullosa simplex and is classified under ICD-10 as Q81.0. It affects both the skin and ectodermal structures, presenting from birth or early infancy with widespread skin fragility, superficial blistering, and erosions that typically occur with minimal trauma. The skin is often dry, rough, and prone to fissuring, particularly on the palms and soles (palmoplantar keratoderma). Ectodermal features include sparse, wiry, or woolly hair (hypotrichosis), nail dystrophy (thickened, ridged, or absent nails), and sometimes abnormalities of sweating. Perioral fissuring and cheilitis are commonly observed. Affected individuals may also experience failure to thrive in infancy. The skin fragility tends to improve somewhat with age, though ectodermal features persist throughout life. There is currently no cure for ectodermal dysplasia-skin fragility syndrome. Treatment is supportive and symptomatic, focusing on careful wound care to prevent secondary infection, use of emollients to manage skin dryness, and protection of the skin from mechanical trauma. Nutritional support may be necessary in infants with feeding difficulties. Regular dermatological follow-up is recommended to monitor skin integrity and manage complications. Genetic counseling is important for affected families given the autosomal recessive inheritance pattern.

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