Subject(s)
Calcium-Transporting ATPases , Mutation , Papillomavirus Infections , Pemphigus, Benign Familial , Humans , Pemphigus, Benign Familial/genetics , Pemphigus, Benign Familial/pathology , Papillomavirus Infections/genetics , Calcium-Transporting ATPases/genetics , Male , Female , Middle Aged , Human Papillomavirus Viruses , AlphapapillomavirusABSTRACT
Hailey-Hailey disease (HHD) is an autosomal dominant disorder in which the ATP2C1 gene has been implicated. Many mutations of this gene have been detected in HHD patients. To analyze such mutations in HHD and summarize all those identified in Chinese patients with this disease, we examined four familial and two sporadic cases and searched for case reports and papers by using the Chinese Biological Medicine Database and PubMed. HHD diagnoses were made based on clinical features and histopathological findings. Polymerase chain reaction and direct sequencing of the ATP2C1 gene were performed using blood samples from HHD patients, unaffected family members, and 120 healthy individuals. Three mutations were identified, including the recurrent mutation c.2126C>T (p.Thr709Met), and two novel missense mutations, c.2235_2236insC (p.Pro745fs*756) and c.689G>A (p.Gly230Asp). Considering our data, 81 different mutations have now been reported in Chinese patients with HHD. In cases of misannotation or duplication, previously published mutations were renamed according to a complementary DNA reference sequence. These mutations are scattered throughout the ATP2C1 gene, with no evident hotspots or clustering. It is of note that some reported "novel" mutations were in fact found to be recurrent. Our findings expand the range of known ATP2C1 sequence variants in this disease.
Subject(s)
Calcium-Transporting ATPases/genetics , Genetic Predisposition to Disease , Mutation , Pemphigus, Benign Familial/genetics , Adult , Asian People , Base Sequence , Case-Control Studies , Child , Female , Gene Expression , Genes, Dominant , Humans , Male , Middle Aged , Molecular Sequence Data , Pedigree , Pemphigus, Benign Familial/diagnosis , Pemphigus, Benign Familial/ethnology , Pemphigus, Benign Familial/pathology , Sequence Analysis, DNA , Terminology as TopicABSTRACT
Mononeuritis multiplex is characterized by an asymmetric pattern with affection of the peripheral nervous system; this form of polyneuropathy is often seen in non-systemic vasculitis. We present a case of multiplex neuropathy in a patient with histologicaly verified Hailey-Hailey disease. With the exception of this comorbidity--in its characteristic form presenting additionally with a superinfected subdermal node--we did not find any other possible etiologic factor possibly causative of multiplex neuritis. The diagnosis was confirmed by electrophysiological testing. To our knowledge, this is the first case report indicating a possible relationship between Hailey-Hailey disease and multiplex neuritis. There exists only one related study in the literature, which was conducted in Columbia--our patient's home country. This study delineates a clinically similar dermal disease (pemphigus foliaceus) in patients from rural Colombia (El Bagre). The authors detected anti-neuronal antibodies which were interpreted to be responsible for the pathognomonic burning sensations.
Subject(s)
Mononeuropathies/diagnosis , Mononeuropathies/genetics , Pemphigus, Benign Familial/diagnosis , Pemphigus, Benign Familial/genetics , Tropical Climate , Adult , Analgesics/therapeutic use , Anti-Inflammatory Agents/therapeutic use , Austria , Colombia , Humans , Male , Mononeuropathies/drug therapy , Pemphigus, Benign Familial/drug therapy , Treatment OutcomeABSTRACT
El pénfigo benigno crónico familiar o enfermedad de Hailey-Hailey es una dermatosis de rara observación, autosómica dominante, vésicoampollar, cuyas lesiones se localizan típicamente en áreas intertriginosas. Se describen formas atípicas, una de las cuales es la "tricofitoide", que se documenta en esta presentación (AU)
Subject(s)
Humans , Female , Adult , Pemphigus, Benign Familial/diagnosis , Pemphigus, Benign Familial/drug therapy , Pemphigus, Benign Familial/genetics , HLA-B AntigensABSTRACT
El pénfigo benigno crónico familiar o enfermedad de Hailey-Hailey es una dermatosis de rara observación, autosómica dominante, vésicoampollar, cuyas lesiones se localizan típicamente en áreas intertriginosas. Se describen formas atípicas, una de las cuales es la "tricofitoide", que se documenta en esta presentación