Case history
Case history #1
A 23-month-old girl presents with erythema and freckle-like pigmented macules on her face. Since infancy, she has developed marked erythema and blistering over the cheeks after minimal exposure to sunlight. She has a history of developmental delay, starting at 6 months of age, associated with speech delay and deafness. Her parents are first cousins and she has two healthy siblings. On physical examination, she has microcephaly and hyporeflexia.
Case history #2
A 4-year-old boy, born to non-consanguineous parents, presents with a history of hypo- and hyperpigmented macules over the sun-exposed areas of his body, which have gradually increased in size and number over the last 3 years. He does not sunburn easily but tans normally. His developmental history is normal. On physical examination, he has hypopigmented and hyperpigmented macules over his face and neck as well as xerotic skin. His lips have numerous freckle-like lesions with no involvement of the oral mucosa. He has a basal cell skin carcinoma on his face. His neurological examination is normal.
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