BG03 The first case of Haim–Munk syndrome in the UK

Abstract Haim–Munk syndrome (HMS) and Papillon–Lefevre (PLS) are rare, autosomal recessive palmoplantar keratodermas (PPKs) characterized by PPK periodontal inflammation. They phenotypic variants of clinically related syndromes caused homozygous or compound heterozygous mutations in cathepsin C (CTSC) on chromosome 11q14. Specific features HMS include pes planus, radiographic deformity the fingers, arachnodactyly, acro-osteolysis onychogryphosis. In contrast, PLS can be associated with neurological disorders, calcification dura mater, hyperhidrosis susceptibility to infection. Fewer than 100 cases have been reported, majority which come from Cochin region India. We describe case a presentation HMS, novel mutation CTSC. To our knowledge, this is first UK. The patient was 14-year-old male, born Gujarat, India, consanguineous, healthy parents. He migrated UK his early teens referred for specialist opinion symptoms ichthyosis PPK, had present age 8 years. treated acitretin before moving Physical examination revealed transgradient generalized mild ichthyosis, inflammation, dystrophic fingernails toenails, marked deformities including contractures, subluxation swan-neck deformities, degree arthritis. Bilateral hand radiographs showed slender, long bones, extension/flexion at several sites but no erosions. Laboratory investigations low iron, folate vitamin D levels. Based clinical findings, diagnosis made. continued acitretin, soap substitutes, regular emollients, supplementation occupational therapy splinting. Next-generation sequencing identified an recessive, c.901G>A (p.Gly301Ser) variant A total 75 mutations, diverse range ethnic groups, reported CTSC; (97%) PLS. seen has previously PLS; however, it not phenotype. This details CTSC HMS. date, genotype–phenotype correlations established, largely due rarity these conditions. report adds existing literature expands understanding findings mutations.