Neurocutaneous Syndromes With Interstitial Lung Disease
Lourdes R. Laraya-Cuasay, Walter T. Hughes in Interstitial Lung Diseases in Children, 2019
Adenoma sebaceum occurs in 80 to 90% of cases and is the most common skin manifestation. Because these lesions histologically are found to be angiofibromas, hamartomas composed of fibrous and vascular tissue, the term adenoma becomes a misnomer. The lesions usually appear as 1 to 4 mm. dome-shaped nodules with smooth surface, and range from pink to red in color, and often accompanied by fine telangiectasia. These lesions are usually bilaterally symmetrical in distribution and located in the nasolabial folds, cheeks, chin, and sometimes in the forehead and scalp. They are rarely found in the upper lip except in the central area immediately below the nose. These lesions are rarely found at birth, may often develop between the second to fifth year, and often not seen until puberty. Only 13% of children develop the facial lesions during the first year of life; hence, this is not the best earliest marker of the disease in children. The periungual and gingival fibromas are seen in about 50% of patients and appear at puberty as firm, flesh-colored growths around and under the nails of fingers and toes. Like adenoma sebaceum, these fibromas cannot be used as an early marker of the disease.3
Renal Cancer
Manit Arya, Taimur T. Shah, Jas S. Kalsi, Herman S. Fernando, Iqbal S. Shergill, Asif Muneer, Hashim U. Ahmed in MCQs for the FRCS(Urol) and Postgraduate Urology Examinations, 2020
Which of the following is TRUE about tuberous sclerosis?The classic triad of tuberous sclerosis include adenoma sebaceum, seizures and AML.10% of patients with TS develop RCC.TS is an autosomal dominant disease caused by mutation of TSC1 gene (chromosome 16) and TSC2 gene (chromosome 9).Adenoma sebaceum usually develop after puberty.The classic triad is seen in only 30% of the patients.
Neurology and neurosurgery
Jagdish M. Gupta, John Beveridge in MCQs in Paediatrics, 2020
12.26. Which of the following skin lesions is/are associated with central nervous system abnormalities?Linear streaky vesicles in the newborn.Vitiligo.Adenoma sebaceum.Café au lait spots.Telangiectasia.
Genetics and optical coherence tomography features in a child with an achromatic retinal patch
Published in Ophthalmic Genetics, 2022
Noy Ashkenazy, Nicolas A. Yannuzzi, Audina M. Berrocal
Achromatic retinal patch does not always present as an isolated macular lesion. In a retrospective series of tuberous sclerosis patients by Shields et al., there was a median of one lesion per eye (range 1–7), with 28 lesions across 12 eyes. The depigmented lesions were found in the extramacular, superonasal quadrant in a quarter of cases (11). Of possible prognostic value, punched out retinal pigment epithelial (RPE) lesions have been associated with positive seizure history, mental retardation, cutaneous adenoma sebaceum, ash leaf macules, and increasing numbers of retinal astrocytic hamartomas (4,11).
Related Knowledge Centers
- Angiofibroma
- Papule
- Tuberous Sclerosis
- Skin Condition