Shagreen patch

Abstract: We report the cross-sectional age-related prevalence of cutaneous features of the tuberous sclerosis complex in a defined population. Of 131 affected individuals, 126 (96%) exhibited skin signs. Although there is considerable variation in the age of expression of all the skin lesions, there is a trend towards the earlier expression of hypomelanic macules and forehead fibrous plaques compared with facial angiofibromas and ungual fibromas. Shagreen patches are usually present by puberty. Ungual fibromas appeared for the first time as late as the fifth decade and were the only clinical feature in three individuals. Gum fibromas were present in 36%. Ten individuals (8%) presented because of the skin manifestations and 21% received treatment for symptomatic skin lesions. Two individuals had large hamartomas at unusual sites (occiput and forearm).

Abstract: Biopsy specimens of five connective tissue nevi were examined under crossed polars after staining with Picrosirius red. One biopsy specimen was from a solitary nevus, another from a Shagreen patch. The other three specimens were of erupted nevi. In all cases, thick (as well as thin) collagen fibers appeared green to yellow. In contrast, thick fibers of normal human dermis appeared orange to red. The findings indicate that the collagen of collagenous connective tissue nevi is less well packed than normal collagen. Examination of the polarization colors of Picrosirius red-stained sections is a useful procedure for diagnosing collagenous connective tissue nevi.

Abstract: To the Editor: Although tuberous sclerosis was described over a century ago, it is only in the last decade that the full spectrum of the condition has been appreciated, and it is now frequently designated as the tuberous sclerosis complex (1). It is an autosomal dominant human genetic disease characterized by widespread hamartomas, usually occurring in the brain, eyes, skin, kidneys, liver, heart, and lungs (1,2). Its systemic nature was first recognized in the clinical triad of seizures, mental retardation, and facial lesions termed adenoma sebaceum (a misnomer) (3). Subsequent studies have led to recognition of the full clinical spectrum of abnormalities in the disease (2). We report an 11-year-old girl with tuberous sclerosis who had a giant shagreen patch in association with spina bifida occulta, rare association. To the best of our knowledge, such a large shagreen patch has not been described in the literature. An 11-year-old girl presented to our dermatologic clinic with an asymptomatic, gradually progressive area of pigmented, thickened skin over the lower back since birth. At the age of 8 years she noted multiple, asymptomatic, raised lesions on her face. She had generalized seizures since early childhood, for which she took antiepileptic medication. Her father was the only family member having a similar disorder. On physical examination, a healthy-looking girl had a large, yellowish, shiny plaque on her lumbosacral region measuring 19 cm · 13.5 cm (Fig. 1). The surface of the plaque was unevenly indurated and the underlying spine had kyphoscoliosis. In addition, she had adenoma sebaceum lesions over her cheeks (Fig. 2), a forehead plaque, and an ash-leaf macule over the abdomen. The oral cavity was normal except for enamel pits in the incisor teeth. Her intelligence was average and she showed good progress in school. Systemic examination was unremarkable. Routine hematologic and biochemical investigations were within normal limits. Histopathologic examination of a biopsy specimen from a representative skin lesion (back) showed a near-normal epidermis with the dermis having dense, broad, collagenous bundles in its lower part. These features were consistent with the clinical lesionof shagreenpatch.On skeletal survey, the skull film revealed a well-defined calcific density in the left parietal region and sclerosis of the skull vault. A radiograph of the lumbosacral region revealed kyphoscoliosis and spina bifida at S1 (Fig. 3). Computerized tomography