Make the Diagnosis: Puzzling Papules


Case Findings: An 8-year-old boy went to the pediatrician with his mother after she noticed a few scattered smooth papules appear across his nose and cheeks. He had always had a few hyperpigmented patches on his trunk, but the papules on his face had developed more recently. They didn’t seem to be bothering him, but with his history of epilepsy from a young age, she didn’t like to leave medical questions unanswered.

What is your diagnosis?

69% Tuberous sclerosis

29% Acne vulgaris

37% Trichoepithelioma

82% Molluscum contagiosum (pediatric)


Tuberous sclerosis (tuberous sclerosis complex, or TSC) is a multisystem autosomal dominant disorder caused by mutations in the genes for the proteins hamartin and tuberin. Approximately 60% of patients have no family history of TSC. It is characterized by tumor-like growths, or hamartomas, in almost every organ. It is often associated with epilepsy, mental retardation, and autism. Diagnosis is challenging due to the wide variation in severity and age-related penetrance of individual manifestations. In some cases, it is not diagnosed until adulthood.

Diagnostic criteria have been developed. Diagnosis can be made when 2 major OR 1 major and 2 or more minor features are observed.

What To Look For:

Hypomelanotic macules ("ash-leaf spots") are round, oval, linear, or lance-ovate-shaped, well-defined macules of decreased pigmentation. Although usually obvious under natural light, fair-skinned infants occasionally require Wood's lamp examination in a completely darkened room to accentuate the macules.

Angiofibromas are 1-4 mm skin-colored, pink, or red papules with a smooth surface located over the nasolabial folds, medial cheeks, and chin. The upper lip and sides of the face are usually spared.

Forehead plaques are skin-colored, pink, or red plaques with irregular outlines and an uneven surface usually located on the forehead or scalp. They may be soft, doughy, or hard.

Shagreen patches are skin-colored, pink, or brown plaques that range in size from 1 cm to several centimeters. They may have depressions at follicular orifices, giving them the appearance of an orange peel (peau d'orange) or an irregular and cobbled surface. Usually, palpation reveals a firm to rubbery texture. In addition to the large solitary plaque, shagreen patches may present as a localized collection of smaller plaques.

Ungual or periungual fibromas are skin-colored to reddish nodules that appear on top of nails and are often associated with deep grooves.

Confetti-like lesions are grouped 1-3 mm hypopigmented macules that are usually found on the extremities.

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