Patients may have other findings suggestive of tuberous sclerosis including confetti hypopigmentation, ash leaf spots, shagreen patch
, and a history of seizures or developmental delay--none of which were present in our patient.
TSC is associated with the formation of hamartomas in different organs including cortical tubers, subependymal nodules and subependymal giant-cell astrocytoma in the brain (causing seizures, mental retardation), multiple retinal nodular hamartomas, hypomelanotic macules, facial angiofibromas, shagreen patch
and periungual fibromas of the skin, cardiac rhabdomyomas, renal angiomyolipomas (AMLs), and pulmonary lymphangioleiomyomatosis (LAM) .
Some physical signs were found, including hypopigmented macules on her back, right forearm, and right calf, ungual fibromas on her left hand, and shagreen patch
on dorsolumbar area of the back [Figure 1]d.
Biopsy of shagreen patch
showed increased collagen in dermis with H&E stain and Verhoeff-Van Gieson stain demonstrates increased red collagen and sparse black elastic fibers.
Diagnostic Criteria for Tuberous Sclerosis (2012) Major Criteria Minor Criteria Cortical tubers Non-renal hamartoma Subependymal nodules Confetti-like skin lesions Hypomelanocytic macule Multiple renal cysts (at least 3 or more and larger than 5 mm) Shagreen patch
Hypopigmented patch in the retina Angiofibroma in the face (more than three) Ungal and periungal fibromas Retinal hamartomas Rhabdomyoma in the heart Lymphangiomatosis in the lung Angiomyolipoma in the kidney (more than two) Definite diagnosis: 2 major or 1 major + >2 minor criteria Possible diagnosis: 1 major or >2 minor criteria Table 2.
Several facial and body hyperpigmented fibrous plaques and a posterior lumbar Shagreen patch
KEY WORDS: Tuberous sclerosis, Shagreen patch
, Hamartomas, Bilateral angiomyolipomas.
-- Based on clinical features alone, the differential diagnosis of this 13-year-old boy's soft plaque included a shagreen patch
of tuberous sclerosis, collagenoma, or a connective tissue nevus, Peyman Ghasri, M.D., said at the annual meeting of the California Society of Dermatology and Dermatologic Surgery.
Angiofibromas (3 or more) or forehead plaque, Hypomelanotic macules (3 or more), Ungual fibromas (2 or more), Shagreen patch
or multiple collagenomas, Multiple retinal hamartomas, Cortical dysplasia's (More than 3).
Recognition of specific lesions including hypomelanotic macules (>3), Shagreen patch
, forehead plaque, non-traumatic fibromas around nails and adenoma sabaceum (angiofibromas on the face) which can be identified on examination of the skin should suggest tuberous sclerosis (2, 3).
Major features of TSC include cutaneous lesions such as adenoma sebaceum, more than three hypomelanotic macules, shagreen patch
, and periungual fibromas; cortical tubers, subependymal nodules, retinal hamartomas, heart rhabdomyomas, renal angiomyolipomas, and lung lymphangiomyomatosis.