Ash leaf macules

Published on 11/06/2015 by admin

Filed under Pediatrics

Last modified 22/04/2025

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Ash-leaf hypopigmented macule of tuberous sclerosis.

Two hypopigmented macules of tuberous sclerosis. Note the different shapes.

CLINICAL FEATURES

Ash leaf macules are lance-ovate-shaped hypopigmented macules which resemble the leaves of the eastern mountain ash tree. They are seen in normal infants and are a diagnostic criterion for tuberous sclerosis. Not all hypopigmented macules are ash leaf shaped. They may be polygonal or confetti-like. Hypopigmented macules are difficult to see in light-skinned children and should be examined in a dark room with a Wood’s light to accentuate the areas of hypopigmentation.

TSC is autosomal dominant, caused by mutations in the genes coding for hamartin (TSC1) and tuberin (TSC2). TSC may be diagnosed either by the appropriate gene testing or by diagnostic criteria. Two major features or one major feature plus two minor features is diagnostic. Three or more hypopigmented macules are one of the major features and confetti-like macules are a minor feature. Other major features that are seen on the skin in TSC include the shagreen patch (connective tissue nevus), facial angiofibromas, fibrous forehead plaque and nontraumatic ungual and periungual fibromas. TSC is a multisystem disease. CNS disease including infantile seizures and mental retardation may be severe as may be the renal involvement.

TREATMENT

Treatment of the hypopigmented lesions, shagreen patch and fibrous forehead plaque is unnecessary.

Facial angiofibromas, if small, will respond to pulse dye laser treatment. Larger, thicker facial angiofibroma lesions will require treatment with a carbon dioxide laser.

Ungual and periungual fibromas require surgical excision.

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