जर्नल ऑफ़ क्लिनिकल एंड एक्सपेरिमेंटल डर्मेटोलॉजी रिसर्च
खुला एक्सेस

अमूर्त

Saudi Patient with Keutel Syndrome, a Rare Disease

Nouf Mohammed Aleid

22 years old female, presents with 2 years history of lax skin on neck and axilla, also patient complain of hardening of both ears. No History of bleeding, or poor wound healing, or tendency to bruise easily. Her sister has same complaint. Her parents are relatives. On examination, patient found to have lax skin in neck and both axillae, no other skin changes. Both ears are firm on palpation. The diagnosis of psuedoxanthma elasticum was suspected and skin biopsy was taken from left axilla which showed: thickened calcified elastic fibers in the dermis, favors the diagnosis of pseudoxanthoma elasticum. Genetic testing: showed homozygous mutation in the matrix Gla protein (MGP) (c.94+1G>A) .So the patient diagnosed as Keutel Syndrome. The patient was referred to ophthalmology , ENT, Plastic, Pulmonolgy and gastroenterology. Keutel syndrome is a rare autosomal recessive disease caused by mutations in the gene encoding the matrix Gla protein (MGP, located at 12p13.1-p12.3). Less than 30 cases have been reported in the literature so far, with the majority of patients being diagnosed during childhood. It is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.