Kindler syndrome: a rare type of inherited epidermolysis bullosa

K.M. Gadzhimuradova¹, O.V. Zhukova², M.N. Gadzhimuradov¹, S.N. Aliyeva³

¹Dagestan State Medical University, Makhachkala

²Moscow Research and Practical Center for Dermatovenereology and Cosmetology, Moscow

³Republican Dermatovenerologic Dispensary, Makhachkala

Kindler syndrome (KS) is a rare autosomal recessive inherited genodermatosis, which manifests as bullae on the skin and mucous membranes from birth. Pathognomonic symptom consists of a combination of photosensitivity, poikiloderma and skin atrophy with structural gum weakness. Diagnosis of KS is based on clinical data and a detailed family history. The article presents a clinical case of an 11-year-old male patient with KS, who suffers from the bullous elements in the oral area and nail deformities from infancy. Among the disease manifestations there are carious teeth, malocclusion, ankyloglossia, atrophic glossitis, skin photosensitivity, visual deterioration, dyspnea. Adding that, the patient family history and presented disease manifestations attracts attention. His father, uncle and grandmother suffer from inherited nail pathology — onychogryphosis, and his mother — severe skin photo sensitivity. It can be assumed that recessive carriage of this gene may manifest as onychogryphosis, as well as cutaneous itching in response to sun exposure. The patient management with KS provides for symptomatic treatment, the creation of a safe environment and regular follow-up by a dermatologist and related specialists.

Keywords: inherited epidermolysis bullosa, Kindler syndrome, family history, poikiloderma, recessive gene.

For citation: Gadzhimuradova K.M., Zhukova O.V., Gadzhimuradov M.N., Aliyeva S.N. Kindler syndrome: a rare type of inherited epidermolysis bullosa. RMJ. 2022;3:59–63.