Indian Dermatology Online Journal

: 2015  |  Volume : 6  |  Issue : 2  |  Page : 142--143

Tuberous sclerosis

Anisha George, Bimal Kanish, Anuradha Bhatia 
 Department of Dermatology, Christian Medical College, Ludhiana, Punjab, India

Correspondence Address:
Anisha George
Department of Dermatology, Christian Medical College, Ludhiana - 141 008, Punjab

How to cite this article:
George A, Kanish B, Bhatia A. Tuberous sclerosis.Indian Dermatol Online J 2015;6:142-143

How to cite this URL:
George A, Kanish B, Bhatia A. Tuberous sclerosis. Indian Dermatol Online J [serial online] 2015 [cited 2021 Jan 26 ];6:142-143
Available from:

Full Text

A 16-year-old girl presented with asymptomatic lesions on her face for 5 years, which began as reddish lesions. She had no neurological symptoms or family history of similar disease. She was found to have skin-colored to slightly hyperpigmented papules 2-4 mm in diameter all over her central face including over the eyelids and vermillion border of lips [Figure 1]. She also had few leafy white macules scattered over her trunk [Figure 2], apart from numerous confetti-like white freckles [Figure 3], rubbery hypopigmented plaques [Figure 4] on her lower back and lower limbs, and subungual tumors [Figure 5]. She was diagnosed to have tuberous sclerosis.{Figure 1}{Figure 2}{Figure 3}{Figure 4}{Figure 5}


Tuberous sclerosis is also known as Bourneville disease or Epiloia, which stands for epilepsy, low intelligence and angiofibromas. Tuberous sclerosis was so named because of the potato-like consistency of the gyri with hypertrophic sclerosis. Mutations in the TSC2 gene on chromosome 16p13.3 are seen in 75%. Most cases are sporadic, with an equal sex ratio. The cutaneous manifestations of this phakomatosis include the ash-leaf macules, confetti skin lesions, adenoma sebaceum, shagreen patches and Koenen's tumors. Other skin lesions include "thumbprint" shaped macules, poliosis, fibrous forehead plaque, molluscum fibrosum pendulum, military fibromas, pachydermodactyly, cafι-au-lait macules, trichoepitheliomas, syringocystadenomas, lipomas, fibromyolipomas and neurofibromas. The ash-leaf patch is also known as Fitzpatrick patch as he named it after the leaf of the European mountain ash tree. It is lance-ovate in shape and characteristic of this disease. It is usually present at birth and a Wood's lamp examination improves its detection. Confetti skin lesions are white freckles, seen less commonly, but are most specific. These hypomelanotic macules on histopathology reveal a normal number of melanocytes, however, the melanocytes have poorly developed dendritic processes with smaller and fewer melanosomes. "Adenoma sebaceum" was the old misnomer for facial angiofibromas, seen in a butterfly pattern and giving a ruddy appearance to the cheeks. These are small red to hyperpigmented, dome-shaped, discrete, smooth, bilaterally symmetrical papules seen over the central face, with relative sparing of the upper lip and lateral face. This dome-shaped lesion on biopsy shows large spindle-shaped fibroblasts in the dermis and a characteristic perifollicular concentric fibrosis giving an "onion-skin pattern." Shagreen patch, also called collagenoma, is named after a type of leather; felt as a rubbery plaque with a firm, irregular, knobby surface similar to shark skin. The prominence of slightly depressed hair follicles is characteristic, giving it an "orange peel" or pigskin-like appearance. Koenen's tumors are ungual fibromas, usually the last cutaneous manifestation, at puberty. They are seen more often over the toe nails rather than fingernails and may be periungual or subungual.