Kin with no skin: Johanson-Blizzard syndrome in siblings: A rare association of aplasia cutis congenita

• Egile Nagusiak: G S Asha (Egilea), K Kavya Shree (Egilea), T N Revathi (Egilea), Kanathur Shilpa (Egilea)
• Formatua: Liburua
• Argitaratua: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease which was first described in 1971 by Johanson and Blizzard in three unrelated girls. Less than 100 cases have been reported to date. It is characterized by exocrine pancreatic insufficiency, hypoplastic nasal alae, scalp cutis ap...