A case of generalized eosinophilic pustular folliculitis: treatment with JAK inhibitor.

AIM: This case study aims to report the efficacy and safety of a Janus kinase (JAK) inhibitor in the treatment of generalized eosinophilic pustular folliculitis (EPF). METHODS: We present a case of a 16-year-old Chinese patient who had been suffering from EPF for two years and had shown no response to both topical and systemic glucocorticoids. The patient was subsequently treated with oral tofacitinib at a dosage of 5mg daily. RESULTS: Significant remission of eruption and pruritus was observed in the patient upon treatment with tofacitinib. However, a relapse occurred upon dose reduction. Subsequent switch to the highly selective JAK1 inhibitor upadacitinib resulted in complete recovery, with the patient achieving a symptom-free status after six months. CONCLUSIONS: JAK inhibitors show promise as a potential treatment option for EPF patients who do not respond to traditional therapies.

Reticular erythematous mucinosis: Relationship between its dermoscopic and histopathological findings.

Key Clinical Message: In reticular erythematous mucinosis, (1) the presence of dotted vessels and (2) uniform, structureless, yellowish-white spots, and patches on dermoscopy correspond to histopathological findings of (1) vessels at the tips of the dermal papillae and (2) thickening and rupture of the collagen and fiber bundles with mucin deposition, respectively. Abstract: Reticular erythematous mucinosis is a rare form of skin mucinosis that primarily affects middle-aged women, typically appearing as papules and plaques in the upper chest or midline of the back. Here, we report the case of a 75-year-old woman with skin papules and plaques left untreated for 8 years. A gross skin examination was followed by histopathological and dermoscopic examinations. The main dermoscopic findings were (1) dotted vessels and (2) uniform structureless yellowish-white spots and patches. The corresponding histopathological findings were (1) vessels at the tips of the dermal papillae and (2) thickening and rupturing of the collagen and fiber bundles with mucin deposition, respectively. Laboratory investigations revealed normal results, ruling out various autoimmune disorders. REM was diagnosed based on these findings. The study presents relevant evidence-based findings in dermatology and cutaneous pathology as it is the first description of REM using dermoscopy. Dermoscopic diagnosis without other unnecessary tests would benefit both the clinician and the patient.

Reticular Erythematous Mucinosis in an African Woman with HIV Infection: Case Report and Literature Review.

Reticular erythematous mucinosis is a rare and persistent form of primary idiopathic mucinosis, often referred to as plaque-like cutaneous mucinosis or midline mucinosis. It presents with reticulate patches or erythematous plaques with predilection for the anterior and posterior trunk. Affected patients are frequently asymptomatic. Pruritus or burning sensations were reported after exposure to the sun. The aetiology remains obscure; its pathogenesis is poorly understood, particularly in immunocompromised patients such as HIV-infected patients. The disease associations are not uniformly documented. Antimalarial agents significantly improve and shorten the course of the disease. We report a case of a 31-year-old African woman with underlying HIV infection who displayed the classical clinical and histological features of reticular erythematous mucinosis. This condition is rare among the HIV-infected patients, particularly in those of African descent, in whom lichen myxoedematosus/scleromyxoedema variants and acral persistent papular mucinoses were most frequently reported. The higher incidence of photosensitivity in HIV-infected individuals including the patients with skin of colour may play a potential role in reticular erythematous mucinosis. Its relationship with lupus erythematosus and photosensitivity in the context of HIV infection is discussed. To the best of our knowledge, this is the first reported case of reticular erythematous mucinosis in an African HIV-infected patient. This case highlights the need for diagnostic awareness in cases presenting with erythematous plaques and patches in a net-like pattern developing on the midline and sun-exposed areas of the trunk.

[Dermato-neuro syndrome-an acute and life-threatening complication of scleromyxedema Arndt-Gottron]. / Dermato-neurologisches Syndrom ­ eine akute und lebensbedrohliche Komplikation des Skleromyxödems Arndt-Gottron.

Scleromyxedema Arndt-Gottron is the systemic variant of lichen myxedematosus in which mucin accumulation occurs in the dermis. The disease is usually chronically progressive and extracutaneous manifestations or complications are possible. The pathogenesis is unknown and the disease is usually associated with monoclonal gammopathy. High-dose intravenous immunoglobulins (IVIg) are considered to be an effective therapy. We report the case of a patient who developed dermato-neuro syndrome following an interruption of IVIg treatment and a SARS-CoV­2 infection. A similar episode occurred 2 years earlier in association with an influenza A infection. Dermato-neuro syndrome is a potentially lethal neurological complication which is characterized by fever, delirium, convulsions, and coma.

Solitary acral persistent papular mucinosis nodule: A case report and summary of eight Korean cases.

BACKGROUND: Acral persistent papular mucinosis (APPM) is a rare idiopathic subtype of localized lichen myxedematosus. To date, there have been 40 APPM cases reported worldwide; however, only 7 cases have been reported in the Korean literature. CASE SUMMARY: A 70-year-old man was referred to our hospital with a solitary pinkish nodule on the dorsum of his right hand. Despite the absence of symptoms, the patient wanted to know the exact diagnosis; thus, a biopsy was performed. Histopathological examination of a biopsy specimen obtained from the nodule on the dorsum of his hand revealed orthokeratotic hyperkeratosis with patchy parakeratosis, prominent hypergranulosis, and diffuse dissecting mucinous deposition between collagen bundles, along with some bland-looking spindle cells throughout the dermis. The nodule was histologically diagnosed as an APPM, and an intralesional triamcinolone injection (2.5 mg/mL) was started every 2 wk. After three sessions of treatment, the patient showed marked improvements. CONCLUSION: To the best of our knowledge, this is the first case of a Korean APPM presenting as a solitary nodule that showed a marked response to triamcinolone intralesional injection. Since it is a rare disease, we report this case to contribute to future research on the pathogenesis and treatment of APPM.

Clinicopathological features, therapeutic options, and significance of CD103 expression in 15 patients with follicular mucinosis.

Background: Follicular mucinosis (FM) is generally divided into a primary benign idiopathic form and a secondary form associated with mycosis fungoides. Objective: To analyze the clinical and pathological features of FM and explore the pathological significance of CD103 expression. Methods: In this case series, we retrospective analysis the clinical, pathological, treatment and follow-up treatment of 15 cases of FM. The expression of CD103 in all cases was detected by immunohistochemistry. Result: A total of 15 patients were enrolled, 7 were primary follicular mucinosis (P-FM) and 8 were mycosis fungoides-associated follicular mucinosis (MF-FM). Lesions of both P-FM and MF-FM are difficult to distinguish, present with red or dark red plaques and follicular papules. Pathologically, MF-FM showed more significant infiltrates of folliculotropic lymphoid cells, and the amount and proportion of CD103+ cells were significantly higher than that in P-FM. Follow-up data were available for 13 patients. Three cases were resolved after surgical resection, two patients were marked improved after oral administration of hydroxychloroquine and three times ALA photodynamic therapy respectively. The rest patients showed only modest efficacy. Conclusion: FM should be differentiated based on pathological characteristics and treatment response, CD103 is helpful in differential diagnosis of FM.

Intestinal Submucosal Mucinosis in a Patient With Systemic Lupus Erythematosus: A Case Report.

Systemic lupus erythematosus (SLE) is an autoimmune disease with various clinical presentations. Mucin deposition is a characteristic finding in skin lesions, but it is rare in other organs. We present a case with erythematous patches from the terminal ileum to the anus in an SLE patient. Diffuse colitis was diagnosed clinically. However, in addition to inflammatory cell infiltration, there was abundant mucinous material deposition in the submucosa. The mucinous material was positive for Alcian blue staining (pH 2.5) and was sensitive to hyaluronidase digestion. These findings are similar to those of cutaneous mucinosis in SLE patients. This is thought to be the first case of gastrointestinal tract mucinosis in SLE reported in the literature.

Liquen mixedematoso atípico asociado a mieloma múltiple / Atypical lichen myxedematosus associated to multiple myeloma

Resumen El liquen mixedematoso (LM) representa un grupo de enfermedades cutáneas raras, el cual se encuentra dentro de las mucinosis crónicas. Anteriormente descrita como escleromixedema localizado, sin embargo, a diferencia de éste, por lo general no tiene compromiso sistémico. Dentro de los subtipos, se encuentra el LM atípico, el cual es infrecuente y hay pocos casos reportados asociados a mieloma múltiple (MM). Se presenta el caso de un paciente masculino con MM positivo para cadenas lambda, con cuadro clínico de inicio agudo, en quien se realizó diagnóstico de LM atípico; recibió manejo con corticoide tópico con mejoría de las lesiones al mes de tratamiento.

Abstract Lichen myxedematous (LM) represents a group of rare skin diseases, which is found within the chronic mucinoses. Previously described as localized scleromyxedema, however, unlike localized scleromyxedema, it usually does not have systemic involvement. Among the subtypes, there is atypical LM, which is infrequent and there are few reported cases associated with multiple myeloma (MM). We present the case of a male patient with MM positive for lambda chains, with acute onset clinical picture, who was diagnosed with atypical LM; he received management with topical corticosteroid with improvement of the lesions after one month of treatment.

Oral focal mucinosis in an adolescent: A rare entity.

Oral focal mucinosis (OFM) is an extremely rare benign lesion of the oral cavity with unknown etiology, considered the oral counterpart of cutaneous focal mucinosis. It occurs mainly in women in the fourth and fifth decades of life. It has no characteristic features, and diagnosis depends on histological evaluation. Its pathogenesis is related to the excessive production of hyaluronic acid by fibroblasts during collagen production, which leads to focal myxoid degeneration. To date, ten documented cases have been reported in the literature in adolescents. This paper reports a rare case of OFM with a narrative review of the available literature.

Case report: Sublingual mucinosis in a dog.

A 11-month-old male intact Shar-Pei (26. 5 kg) was presented for a bilateral sublingual swelling of 4 months duration. The exploration of the oral cavity highlighted the presence of bilateral sublingual swellings, primarily consistent with bilateral ranula. The bilateral disease was treated with two subsequent surgeries 4 weeks apart. During the surgery, after removing an elliptical portion of the mucosa of the sublingual swelling, the presence of gelatinous tissue was visualized, and no saliva was present. The result of histological exam was oral mucinosis. At the subsequent follow-up the dog was in excellent conditions, without any symptoms. 1 month after the last operation, the dog underwent a visit in sedation to better evaluate the oral cavity. Both surgical sites were well-healed and without the presence of relapses. Upon 8 months follow-up the patient remained free of disease. This is the first reported case of oral mucinosis in sublingual mucosa in dogs. In this case the surgical treatment was curative.

Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds.

The plasticity of the genome is an evolutionary factor in all animal species, including canines, but it can also be the origin of diseases caused by hereditary genetic mutation. Genetic changes, or mutations, that give rise to a pathology in most cases result from recessive alleles that are normally found with minority allelic frequency. The use of genetic improvement increases the consanguinity within canine breeds and, on many occasions, also increases the frequency of these recessive alleles, increasing the prevalence of these pathologies. This prevalence has been known for a long time, but mutations differ according to the canine breed. These genetic diseases, including skin diseases, or genodermatosis, which is narrowly defined as monogenic hereditary dermatosis. In this review, we focus on genodermatosis sensu estricto, i.e., monogenic, and hereditary dermatosis, in addition to the clinical features, diagnosis, pathogeny, and treatment. Specifically, this review analyzes epidermolytic and non-epidermolytic ichthyosis, junctional epidermolysis bullosa, nasal parakeratosis, mucinosis, dermoid sinus, among others, in canine breeds, such as Golden Retriever, German Pointer, Australian Shepherd, American Bulldog, Great Dane, Jack Russell Terrier, Labrador Retriever, Shar-Pei, and Rhodesian Ridgeback.