TY - JOUR T1 - Malar rash in a young child with neurodevelopmental delay: a quiz JF - Archives of disease in childhood - Education & practice edition JO - Arch Dis Child Educ Pract Ed SP - 28 LP - 30 DO - 10.1136/archdischild-2019-318334 VL - 107 IS - 1 AU - Lamiaa Hamie AU - Georges Nemer AU - Mazen Kurban Y1 - 2022/02/01 UR - http://ep.bmj.com/content/107/1/28.abstract N2 - ­ 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.Figure 1 Clinical image. A hyperpigmented exfoliating plaque distributed over the malar area associated with enophthalmos and a pinched nose.Bloom syndrome.Rothmund Thomson syndrome.Cockayne syndrome.Xeroderma pigmentosum.Trichothiodystrophy. Answers can be found on page 02. 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 … ER -