Tuberous Sclerosis

Barakat, Amin J.; Cochran, Winston E.

doi:10.1177/000992287801701201

Cited by 12 publications

(3 citation statements)

References 8 publications

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“…The classical features of this disease, epilepsy, mental retardation and adenoma sebaceum, are well recognised but may not be present at an early age. The expression of TS is extremely variable and some patients never show the classical features (Barakat and Cochran 1978). Stapleton et a/.…”

Section: Discussionmentioning

confidence: 99%

Two Half‐siblings with Tuberous Sclerosis, Polycystic Kidneys and Hypertension

Michel¹,

Diggle²,

Brice

et al. 1983

Develop Med Child Neuro

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SUMMARY Two half‐brothers with tuberous sclerosis (TS) presented with polycystic kidneys in early childhood, before the classical stigmata became apparent. Their father shows no evidence of the disease. The older boys subsequently developed adenoma sebaceum at nine years and the younger boy developed infantile spasms. Hypertension occurred in both cases but neither showed evidence of renal failure. Extensive renal cyst formation in TS is rare, but when it does occur it differs from both infantile and adult‐type polycystic disease. TS should be considered in the differential diagnosis of renal enlargement, haematuria and hypertension in childhood. RÉSUMÉ Sclérose tubéreuse avec reins polykystiques et hypertension chez deux demi‐frères L'article rapporte le cas de deux demi‐frères avec sclérose tubéreuse (TS) qui avaient présent des reins polykystiques durant la première enfance avant que les stigmates classiques de TS deviennent apparents. Leur père ne présentait aucun signe de TS. Le garçon le plus âgé développa ultérieurement un adénome sébacéà neuf ans et le plus jeune des spasmes infantile avec des nodules typiques au scanner de la tĉte. L'hypertension était présente dans les deux cas, mais il n'y avait chez aucun des deux enfants d'insuffisance rénale. Les formations kystiques rénales extensives sont rares au cours de la TS et different de la maladie polykystique aussi bien de type infantile que de type adulte. La TS devrait être envisagée comme diagnostic différentiel en cas d'augmentation de volume rénal, d'hématurie ou d'hypertension chez l'enfant. ZUSAMMENFASSUNG Tuberöse Sklerose mit polycystischen Nieren und Hochdruck bei zwei Halbgeschwistern Es werden zwei Halbbrüder mit tuberöser Sklerose (TS) beschrieben, die im frühen Kindesalter polycystische Nieren hatten, bevor die klassischen Stigmata der TS deutlich wurden. Der ältere Junge bekam später im Alter von neun Jahren ein Adenoma sebaceum und der jüngere entwickelte BNS‐Krämpf mit dem typischen Befund für TS im CT Scan des Kopfes. Beide Patienten hatten einen Hochdruck, aber keiner zeigte Anzeichen eines Nierenversagens. Ausgedehnte Nierencystenbildung ist bei der TS selten, aber sie unterscheidet sich sowohl vom kindlichen als auch vom erwachsenen Typ der polycystischen Erkrankung. Bei der Differentialdiagnose von Nierenvergrößerung, Hämaturie und Hochdruck im Kindersalter sollte die TS nicht vergessen werden. RESUMEN Esclerosis tuberosa con riñones poliquisticos e hipertensión en dos hermanastros Se describen dos hermanastros con esclerosis tuberosa (ET) que presentaron riñones poliquisticos en la segunda infancia, antes de que aparecieran los estigmas clásicos de la ET. Su padre no mostraba ninguna evidencia de ET. El niño mayor presentó posteriormente un adenoma sebáceo a los nueve años y el menor, espasmos infantiles con tipicos tubérculos visibles en la TAC cerebral. En ambos casos había hipertensión, pero ninguno mostró evidencia de fallo renal. La formación quística renal extensa es rara en la ET pero difiere de la enfermedad poliquistica tan...

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Section: Discussionmentioning

confidence: 99%

Two Half‐siblings with Tuberous Sclerosis, Polycystic Kidneys and Hypertension

Michel¹,

Diggle²,

Brice

et al. 1983

Develop Med Child Neuro

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“…Angiofi bromas (AF) are 1-3 mm yellowish-red, translucent, discrete, waxy papules that are distributed symmetrically over the cheeks, chin, nose and forehead, and they represent a common presentation of tuberous sclerosis (4). They cause considerable cosmetic, hygienic, psychological problems, bleeding, and secondary infections.…”

Section: Introductionmentioning

confidence: 99%

Treatment of Facial Angiofibromas of Tuberous Sclerosis Wi̇th Radiofrequency Dessication and Coagulation

2014

RoJCED

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Tuberous sclerosis is an autosomal dominant neurocutaneous disorder with an incidence of approximately 7/100 000. Inheritance is autosomal dominant, but up to 70% of cases are new mutations. Tuberous sclerosis is mainly characterized by a triad of epilepsy, learning diffi culties and skin lesions including angiofi bromas, hypopigmented macules, connective tissue naevi and periungual fi bromas. Angiofi bromas are a common presentation of tuberous sclerosis. They cause considerable cosmetic and hygienic morbidity for patients. Treatments of angiofi bromas have included curettage, cryosurgery, chemical peeling, dermabrasion, shave excision, lasers and 13-cis retinoic acid. Traditional methods of treating angiofi bromas are not entirely successful as they frequently lead to scarring and pigmentary changes. We report the successful use of radiofrequency dessication and coagulation in treating multiple angiofi bromas of four patients. The technique is easy to use and very cost effective.

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“…Adenoma sebaceum is the commonest skin manifestation, being present in 80-90% of patients and considered pathognomonic. 1 The lesions appear shortly after birth with 40% having developed by the age of 3 years. However, the name is misleading as the condition actually comprises angiofibromas or hamartomas of fibrous and vascular tissue, 2 which appear as smooth, erythematous papules 1-5 mm in diameter, typically located on the cheeks, chin and nasolabial folds.…”

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confidence: 99%

Successful treatment of adenoma sebaceum with the potassium titanyl phosphate laser

Hindson

1998

Clinical and Experimental Dermatology

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Tuberous Sclerosis

Cited by 12 publications

References 8 publications

Two Half‐siblings with Tuberous Sclerosis, Polycystic Kidneys and Hypertension

Two Half‐siblings with Tuberous Sclerosis, Polycystic Kidneys and Hypertension

Treatment of Facial Angiofibromas of Tuberous Sclerosis Wi̇th Radiofrequency Dessication and Coagulation

Successful treatment of adenoma sebaceum with the potassium titanyl phosphate laser

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