Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0043346 (xeroderma pigmentosum)
 2,924 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

-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.edpract;archdischild-2019-318334v1/F1F1F1Figure 1Clinical image. A hyperpigmented exfoliating plaque distributed over the malar area associated with enophthalmos and a pinched nose. WHAT'S YOUR DIAGNOSIS?: Bloom syndrome.Rothmund Thomson syndrome.Cockayne syndrome.Xeroderma pigmentosum.Trichothiodystrophy.Answers can be found on page 02.
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PMID:Malar rash in a young child with neurodevelopmental delay: a quiz. 3244 77