A. Café au lait spots
B. Capillary haemangioma
C. Port-wine stain
D. Shagreen patch
E. Adenoma sebaceum
F. Cutis Marmorata
G. Herald's patch
H. Peri-oral pigmentation
I. Hypo pigmentation
J. Tuber
Select one option from the list above that is most suitable for the following patients
1) An 11 year old boy with learning difficulties has an acne type rash over the nose
2) A 4 year old boy with a history of focal seizures and a birth mark
3) An infant with Down's syndrome has mottled appearance to the skin.
Answers …E C F
E. Adenoma sebaceum
Note:
relates to the condition known as
Tuberous sclerosis. It is a condition where by hamartomatous lesions become evident in early childhood. Seizures and learning difficulties are common and skin manifestations include fibrous angiomatous lesions in the naso labial folds known as adenoma sebaceum. White macules are seen over the trunk known as Ash leaf macules and Shagreen patches resemble goose like flesh. Subungual fibromata are also common.
C. Port-wine stain
Note:
relates to Sturge-Weber syndrome. The association and localization of aberrant vasculature in the facial skin, eyes and meninges. Most commonly in the trigeminal nerve distribution.
F. Cutis Marmorata
Note:
relates to Cutis Marmorata, a mottled, marbled type appearance to the skin. Common in Down's syndrome as well as other Trisomies, hypothyroidism and Cornelia-de-Lange syndrome.
