Titlebook: Challenging Cases in Dermatology Volume 2; Advanced Diagnoses a Mohammad Ali El-Darouti,Faiza Mohamed Al-Ali Book 2019 Springer Nature Swit

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Neck Scarring, with Defects of Ears and EyesA lady and her sister presented with bilateral neck scarring, broad nasal root, deformed ears with preauricular pits, and small-sized squinted eyes with colobomas. Biopsy from the scarred skin showed atrophic skin, scarred dermis, and absent skin appendages. A high index of suspicion aided in diagnosing this rare genetic disorder.

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Anhidrosis, Atrophic Skin, Dystrophic Teeth, with Blister FormationA boy presented with sparse scalp hair and absent eyebrows and eyelashes. A girl presented with anhidrosis and dystrophic teeth. Both cases had thin atrophic skin with spontaneous blistering and erosions. Specific histopathological features were consistent of a newly described genodermatosis.

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