UNASSIGNED: Hailey-Hailey disease is a rare autosomal dominant genodermatosis whose cause is the ATP2C1 gene mutation. A prevalence of 1 in 50,000 cases is estimated and it manifests as grouped flaccid vesicles that break easily. The diagnosis is confirmed with the histopathological study creating an appearance called \"dilapidated brick wall\", identifying dyskeratosis in the form of round bodies and pimples. Treatment ranges from general measures to multiple pharmacological options, with topical corticosteroids being the most commonly used.
UNASSIGNED: Male patient diagnosed with Hailey-Hailey disease. On physical examination we observed a dermatosis disseminated to the neck, trunk, axillary and inguinal folds, and intergluteal region, unilateral, asymmetric with a polymorphous appearance, constitution due to exulceration, erythema, some pustules and flaccid vesicles that coalesced to form eczematous and hypertrophic plaques with the presence of fine scales on their surface, with a chronic evolution accompanied by pruritus. We also took the opportunity to review the most relevant information in the literature regarding Hailey-Hailey disease, especially focused on the therapeutic aspect.
UNASSIGNED: It is important to take into account that Hailey-Hailey disease is a rare pathology, in order to make a differential diagnosis in daily clinical practice.
UNASSIGNED: la enfermedad de Hailey-Hailey es una rara genodermatosis autosómica dominante cuya causa es la mutación del gen ATP2C1. Se estima una prevalencia de 1 por cada 50,000 casos y se manifiesta como vesículas flácidas agrupadas que se rompen con facilidad. El diagnóstico se confirma con el estudio histopatológico que crea una apariencia denominada “pared de ladrillo dilapidada” y se identifica disqueratosis en forma de cuerpos redondos y granos. El tratamiento comprende desde medidas generales hasta múltiples opciones farmacológicas y los corticoesteroides tópicos son los más utilizados.
UNASSIGNED: paciente del sexo masculino con diagnóstico de enfermedad de Hailey-Hailey. A la exploración física observamos una dermatosis diseminada a cuello, tronco, pliegues axilares, inguinales y región interglútea, de manera unilateral, asimétrica, de aspecto polimorfo, constituida por exulceración, eritema, algunas pústulas y vesículas flácidas que confluían para formar placas eccematosas e hipertróficas con escama fina, de evolución crónica, acompañada de prurito. Además, aprovechamos la oportunidad para revisar la informacion más relevante en la literatura con respecto a la enfermedad de Hailey-Hailey, especialmente enfocados en el aspecto terapéutico.
es importante tener en cuenta que la enfermedad de Hailey-Hailey es una patología rara, a fin de hacer un diagnóstico diferencial en la práctica clínica rutinaria.

Hailey-Hailey disease (HHD) is a rare, autosomal dominant genodermatosis caused by a mutation of the ATP2C1 gene and presenting as an erosive dermatosis, particularly in the intertriginous areas. Generalized HHD is a rare variant. We present a case of widespread, recalcitrant HHD in a middle-aged woman with a fatal outcome. No other underlying dermatosis was identified, with the possible exception of drug sensitivity to carbamazepine. Diagnosis of HHD was confirmed by histology and genetic studies which showed a c.2395C>T mutation in the ATP2C1 gene. Concurrent pemphigus was excluded. Cases of generalized HHD are extremely rare and present a challenge in diagnosis and management. Increased awareness of this severe clinical variant is needed to improve quality of care for patients with this form of HHD.

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The MDHHgermany registry was initiated to characterize the \"real-life\" situation of affected individuals with Darier\'s disease (DD; Morbus Darier, MD) and Hailey-Hailey disease (HH), including their treatment and healthcare. To gain deeper insights into medical care of patients with DD, various aspects such as demographics, subjective symptoms, patient satisfaction with medical care, past and current therapies were explored. Patients with diagnosed DD were included. Subjective symptoms such as itch, pain and burning sensation were assessed. Individual therapy goals were recorded and patients assessed previous/current therapies along with satisfaction of medical care and treatment. A total of 55 patients were recruited; 47 patients were eligible for the analysis. Pruritus was rated the most bothersome symptom. Some 42.6% had not received systemic treatment so far or systemic therapies were rated ineffective (32.6%). Most commonly oral retinoids were prescribed, followed by corticosteroids. Patient satisfaction with medical care and treatment proved to be mediocre. This \"real-life\" data show an alarming unmet need regarding patients\' satisfaction with medical care and treatment, evidenced by the reported lack of disease control. Further studies and interventions are needed to improve the spectrum of available therapies. MDHHgermany provides a foundational platform for future clinical trials, epidemiological studies, and pathophysiological analyses.

Hailey-Hailey disease is a rare genodermatosis described in 1939, with an autosomal dominant inheritance pattern, characterized by compromised adhesion between epidermal keratinocytes. It has an estimated prevalence of 1/50,000, with no gender or race predilection. It results from a heterozygous mutation in the ATP2C1 gene, which encodes the transmembrane protein hSPA1C, present in all tissues, with preferential expression in keratinocytes. Mutations in the ATP2C1 gene cause changes in the synthesis of junctional proteins, leading to acantholysis. It usually begins in adulthood, with isolated cases at the extremes of life. It manifests as vesico-bullous lesions mainly in the flexural areas, which develop into erosions and crusts. Chronic lesions may form vegetative or verrucous plaques. Pruritus, a burning feeling and pain are common. It evolves with periods of remission and exacerbation, generally triggered by humidity, friction, heat, trauma and secondary infections. The diagnosis is based on clinical and histopathological criteria: marked suprabasal acantholysis, loosely joined keratinocytes, giving the appearance of a \"dilapidated brick wall\", with a few dyskeratotic cells. The acantholysis affects the epidermis and spares the adnexal epithelia, which helps in the differential diagnosis with pemphigus vulgaris. Direct immunofluorescence is negative. The main differential diagnoses are Darier disease, pemphigus vegetans, intertrigo, contact dermatitis, and inverse psoriasis. There is no cure and the treatment is challenging, including measures to control heat, sweat and friction, topical medications (corticosteroids, calcineurin inhibitors, antibiotics), systemic medications (antibiotics, corticosteroids, immunosuppressants, retinoids and immunobiologicals) and procedures such as botulinum toxin, laser and surgery. There is a lack of controlled clinical trials to support the choice of the best treatment.

Hailey‒Hailey disease is a rare chronic autosomal-dominant blistering disease characterized by erosions, fissures, and vegetations occurring in intertriginous regions. To date, there is no specific treatment and there are no therapeutic guidelines, which makes management of the disease challenging. We present the case of a 43-year-old man unsuccessfully treated for Hailey‒Hailey disease with topical and systemic corticosteroids, antibiotics, and surgical debridement. At presentation he had erosions, vegetations, and infection in the axillae and groin. We introduced oral methotrexate, 10 mg weekly, and complete remission was achieved in 3 weeks. After 8 weeks, we decided to discontinue methotrexate due to lesion absence. Over 3 years of follow-up, mild flares were effectively managed with topical miconazole or mild steroid creams. We conclude that oral methotrexate is safe and effective for achieving long-term remission in Hailey‒Hailey disease.

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