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.
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.
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).
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.
Segmental tuberous sclerosis in a patient presenting as unilateral facial angiofibromas, periungual fibromas and 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.
Diagnostic criteria for tuberous sclerosis complex (a,b) Major Features Minor Features Facial angiofibromas or forehead Multiple random pits in dental enamel plaque Ungual or periungual fibroma Hamartomatous rectal polyps More than three hypomelanotic Bone cysts macules Shagreen patch
Cerebral white matter radial migration lines Multiple retinal nodular Gingival fibromas hamartomas Cortical tuberous lesion Nonrenal hamartoma Subependymal nodule Retinal achromic patch Subependymal giant cell "Confetti" skin lesions astrocytoma Cardiac rhabdomyoma(s) Multiple renal cysts Lymphangioleiomyomatosis Renal angiomyolipoma (a) Diagnosis (based on Rbach ES, Gomez MR, Northrup H.
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 Criteria Minor Criteria Facial angiofibromas or Multiple randomly distributed forehead plaque pits in dental enamel Ungual or periungual fibroma Hamartomatous rectal polyps (Non-traumatic) Bone cysts Hypomelanotic macules (>3) Cerebral white matter Shagreen patch
(connective migration tracts tissue naevus) Gingival fibromas Cortical tuber Nonrenalhamartoma Subependymal nodule Retinal achromic patch Subependymal giant cell astrocytoma Confetti skin lesions Multiple retinal nodular hamartomas Multiple renal cysts Cardiac rhabdomyoma, single or multiple Nonrenal hamartomas Pulomary lymphangiomyomatosis Renal angiomyolipoma.
Adenoma sebaceum was the commonest (95%) cutaneous feature of tuberous sclerosis followed by ash leaf macule and shagreen patch
each seen in 90% patients followed by Koenen's tumour seen in 75% patients.
Major criteria include facial angiofibromas or forehead plaque, nontraumatic ungual fibroma, three or more hypomelanotic macules, shagreen patch
(most commonly on the torso and chest), multiple retinal nodular hamartomas, cortical tuber, subependymal nodule, subependymal giant cell astrocytoma, single or multiple cardiac rhabdomyoma, renal angiomyolipoma, and pulmonary lymphangiomyomatosis, said Dr.