Amit Pandya

Are You Confident of the Diagnosis? Conradi-Hünermann syndrome is a rare genetic disease, which presents with skeletal, ocular and cutaneous anomalies with asymmetric involvement of the body. It is caused by mutations in the gene encoding delta (8)-delta (7) sterol isomerase emopamil-binding protein (EBP) and is inherited in an X-linked dominant pattern with variable expressivity,…

Are You Confident of the Diagnosis? What you should be alert for in the history One should suspect postinflammatory hyperpigmentation (PIH) and hypopigmentation when a patient describes antecedent injury or inflammation of the affected area. Characteristic findings on physical examination Characteristic findings include hyper- and hypopigmented macules corresponding to areas of prior inflammation or injury,…

Apert [syndrome synonym: acrocephalosyndactyly, type 1, ACS1 or ACSI] Apert syndrome (AS) is an uncommon autosomal dominant disease affecting about 1 in 65,000 individuals characterized by craniosynostosis, midface hypoplasia, and symmetric syndactyly of the hands and feet. The majority of cases are caused by de-novo activating mutations of the fibroblast growth factor receptor 2 (FGFR2)…