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Fig. 3 | BMC Medical Genomics

Fig. 3

From: Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders

Fig. 3

The cases without molecular diagnosis. (A-C). The three patients were clinically considered as epidermolysis bullosa. Blisters mainly on the extensor sides of the extremities. Scars or atrophy left after the skin lesions healed, which affected the function of the joints. (D) Proband #25 manifested as multiple cystic nodules on the neck, limbs and trunk. Steatocystoma multiplex is clinically considered. (E) The clinical features of Proband #4 showing café-au-lait spots on his trunk and small fibromas on his neck. (F) Proband #13 is characterized by multiple tough yellow telangiectatic papules on the face. (G) Proband #17 from a 3-generation autosomal dominant family with ichthyosis vulgaris, presented dry skin with scaly desquamation on his extremities since birth. (H) The clinical manifestation of proband #24 was dark brown patches on the face and back. Follicular papules and short bristles could be seen on the surface of the skin lesions. Becker’s nevus syndrome is considered

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