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A 14-month-old boy born to consanguineous parents presented to our Dermatology Department with a 6-month history of a malar eczematous rash that worsens with sun exposure. He had butterfly-shaped, hyperpigmented exfoliating plaques, preceded by blister formation (figure 1). He was also noticed to have enophthalmos, a pinched nose, microcephaly and a cachectic physique. His height and weight were below the first percentile for his age. In addition, the patient was noticed to have motor and psychosocial delay; he does not respond to simple spoken requests, cannot get into sitting position without help or stand/walk with help of furniture. The eye examination was completely normal including the absence of retinal and corneal changes. Complete blood count, liver function tests and a karyotype did not show any abnormal findings. Imaging studies were not done.
What’s your diagnosis?
Rothmund Thomson syndrome.
Answers can be found on page 02.
Answers to the Questions on page 01.
C. Diagnosis: Cockayne syndrome
Cockayne syndrome (CS) is a rare genetic disorder characterised by premature ageing signs, microcephaly and developmental delay. In addition, the affected patients commonly display cutaneous photosensitivity. CS is inherited in an autosomal-recessive …
Contributors LH was responsible for manuscript writing. MK and GN were responsible for the identification of the genetic mutation and confirmation of the diagnosis.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.