Dermatology case

Fernando Mota, Susana Machado, Manuela Selores

Abstract


Tuberous sclerosis is an inherited neurocutaneous disorder characterized by pleomorphic features involving many organ systems, including the skin. The diagnosis of tuberous sclerosis is clinical. The most common cutaneous lesions are hypopigmented macules, also known as ash-leaf spots, which are usually elliptic in shape, angiofibromas, which typically involve the malar regions of the face, and shagreen patches, most commonly present over the lower trunk.
In the present case, the patient was referred to the dermatology department due to an atypical lesion with an uncommon location, revealing the importance of a whole body examination in patients with this disease.


Keywords


Tuberous sclerosis; Shagreen patch; hypopigmented macules; angiofibromas

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References


Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis

complex. N Engl J Med 2006;355:1345.

Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis.

Lancet 2008;372:657.

Au KS, Williams AT, Roach ES, et al. Genotype/phenotype

correlation in 325 individuals referred for a diagnosis of tuberous

sclerosis complex in the United States. Genet Med

;9:88.

Lyczkowski DA, Conant KD, Pulsifer MB, et al. Intrafamilial

phenotypic variability in tuberous sclerosis complex. J Child

Neurol 2007;22:1348.

Yates JR, Maclean C, Higgins JN, et al. The Tuberous Sclerosis

Study: presentation, initial assessments and implications

for diagnosis and management. Arch Dis Child

;96:1020.

Aldrich CS, Hong CH, Groves L, et al. Acral lesions in tuberous

sclerosis complex: insights into pathogenesis. J Am

Acad Dermatol 2010;63:244.

Roach ESm Gomez MR, Northrup H. Tuberous sclerosis

complex consensus conference: revised clinical diagnostic

criteria. J Child Neurol 1998;13:624-8.

Leung AK, Robson WL. Tuberous sclerosis complex: a review.

J Pediatr Health Care 2007;21:108-14.

Balestri R, Neri I, Patrizi A, Angileri L, Ricci L, Magnano M.

Analysis of current data on the use of topical rapamycin in

the treatment of facial angiofibromas in tuberous sclerosis

complex. J Eur Acad Dermatol Venereol 2015;29:14-20.


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