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Few cases of isolated (nonsyndromic, nonendocrinopathy) familial acanthosis nigricans (FAN) have been described, and most have not included genetic testing. We present a three-generation family with isolated FAN, whose genetic study revealed a heterozygous FGFR3 gene variant [NM_0001425: c.2302G>T; p.(Glu768Ter); E768X]. We propose genetic mechanisms that could explain the pro-mitogenic effect on the skin without bone involvement and the spectrum of clinical manifestations associated with germline FGFR3 mutations.

We describe a patient with unilateral ulcerations on the forehead and scalp, occurring 3 months after herpes zoster infection. Further investigations were unremarkable. Histology showed epidermal and upper dermal ulceration associated with a mild nonspecific dermal inflammatory infiltrate composed of lymphoid cells and histiocytes.

Extensive subtypes of alopecia areata (AA) (totalis, universalis, or multifocal) still have no approved and effective treatments in Europe, although Janus kinase inhibitors, such as baricitinib, are promising treatments that have been recently approved by the FDA. Nowadays, the higher costs and the lower experience with Janus kinase inhibitors, provide more difficulties in its accessibility. On the other hand, different corticosteroids regimens have been evaluated with conflicting results from decades. In 2016, a new regimen of mini pulse corticosteroid therapy with oral dexamethasone (MPCT-OD) 0.1mg/kg/day twice per week for adult patients with alopecia areata totalis or universalis, was reported to be effective with a lower rate of adverse effects. We performed a retrospective and multicentric study to collect data from patients with extensive forms of alopecia areata who had received MPCTOD (0.1 mg/kg/day twice weekly of dexamethasone) for at least 24 weeks. We included adult patients (≥18 years) with extensive forms of AA (SALT index ≥ 10) that did not respond to previous treatments. Variables including epidemiological and clinical data were recorded. Therapeutic response was assessed through the % change in SALT score (from 0 to 100%) and the changes in eyebrow and eyelash alopecia index (EBA, ELA) from baseline to 24 weeks after the beginning of the treatment. Dexamethasone dosage, duration of the treatment, time until response, time to relapse, adverse effects, and discontinuation were also recorded.

Background and objectives Epidemiologic and disease burden data are essential for disease control and optimal health care resource planning. The aims of this study were to estimate the epidemiologic burden of psoriasis and evaluate associated comorbidities, health care utilization, and sick leave. Material and methods We collected data from the 2016 Catalan Health Survey (ESCA), the Catalan Registry of Morbidity and Utilization of Health Care Services (MUSSCAT) (2016), and the database of the Catalan Medical Evaluations Institute (ICAM) (2012–2016). Results The prevalence of psoriasis in Catalonia according to 2016 ESCA data is approximately 1.8%. The MUSSCAT registry data indicate that the incidence has remained stable in recent years. The most common comorbidities associated with psoriasis are hypertension (35%) and diabetes (15%). Forty percent of patients with psoriasis have a moderate to high risk for death or high health resource utilization. Annual use of resources by psoriasis patients is high: they make a mean of 8.7 primary care visits, 2.8 outpatient visits, 0.5 emergency and day hospital visits, 0.2 mental health visits, and use 6.1 medications. Sick leave due to psoriasis or psoriatic arthritis accounted for 0.04% of all cases. Conclusions The prevalence of psoriasis in Catalonia is high at 1.8%. The disease burden is also high, both in terms of comorbidities and health care utilization.

Resumen: Antecedentes: La dermatoscopia digitalizada (DD) ha demostrado mejorar la precisión en el diagnóstico del melanoma (MM) en pacientes de alto riesgo. La combinación de DD y fotografía corporal total (FCT) puede facilitar la detección de nuevas lesiones o la aparición de cambios macroscópicos precoces en lesiones previamente registradas. Objetivos: El objetivo del presente estudio fue determinar el número de biopsias necesarias para diagnosticar un MM y, las características clínicas y dermatoscópicas asociadas al diagnóstico de melanoma en pacientes en seguimiento, mediante DD y FCT, de lesiones pigmentadas. Pacientes y métodos: Se realizó un estudio retrospectivo de 152 pacientes con elevado riesgo de sufrir MM, en seguimiento digitalizado entre el 2002 y el 2016, en el Hospital del Mar de Barcelona. Se estudiaron y analizaron las lesiones pigmentadas extirpadas a partir de los cambios observados tras controles periódicos con DD y FCT. Resultados: Se analizaron un total de 99 biopsias (84 nevus displásicos, 13 MM y dos nevus melanocíticos junturales/compuestos) con una ratio lesión melanocítica benigna: MM de 6,6. El índice Breslow promedio fue de 0,19 mm. Las lesiones malignas presentaron, con mayor frecuencia, cambios macroscópicos respecto a los nevus melanocíticos (p = 0,018). En el análisis dermatoscópico, el crecimiento asimétrico y los cambios focales en estructuras se asociaron con MM (p < 0,001). Los parámetros de dermatoscopia individuales relacionados con el diagnóstico de MM fueron la asimetría (p < 0,001), retículo pigmentado invertido (p = 0,011), glóbulos atípicos (p = 0,011) y vasos polimorfos (p = 0,045). Conclusiones: El seguimiento mediante FCT resulta una herramienta útil en el diagnóstico precoz de MM. Un 50% de los melanomas detectados mediante el seguimiento digitalizado se diagnosticaron por la aparición de una lesión nueva en los mapas corporales o por la detección de cambios macroscópicos de una lesión preexistente. El seguimiento dermatoscópico resulta fundamental, ya que un elevado número de hallazgos dermatoscópicos individuales pueden observarse tanto en nevus melanocíticos como en un melanoma maligno, y el diagnóstico de malignidad solo se puede establecer a partir de los cambios en el registro de dermatoscopia durante el seguimiento. Abstract: Background: Digital dermoscopy (DD) has been found to improve the accuracy of melanoma diagnosis in high-risk patients. A 2-step approach combining DD and total-body photography (TBP) can facilitate the detection of new lesions or early macroscopic changes in existing lesions. Objectives: The aim of this study was to determine the number of biopsies needed to diagnose melanoma and to describe the clinical and dermoscopic characteristics of melanoma diagnosed in patients with pigmented lesions under follow-up with DD and TBP. Patients and methods: Retrospective study of 152 patients with a high risk of melanoma who were followed using a 2-step digital approach at Hospital del Mar in Barcelona, Spain, between 2002 and 2016. We analyzed the characteristics of pigmented lesions excised after macroscopic changes were detected by periodic DD and TBD. Results: Biopsy results of 99 lesions (84 dysplastic nevi, 13 melanomas, and 2 compound melanocytic nevi) showed a ratio of benign melanocytic lesions to melanomas of 1:6.6. The mean Breslow thickness was 0.19 mm. Macroscopic changes were significantly more common in melanomas than in melanocytic nevi (P = 0.018). Dermoscopic findings associated with melanoma were asymmetric growth and focal structural changes (P < 0.001). The specific features associated with a diagnosis of melanoma were asymmetry (P < 0.001), a reverse pigment network (P = 0.011), atypical globules (P = 0.011), and polymorphous vessels (P = 0.045). Conclusions: TBP follow-up is a useful tool for the early diagnosis of melanoma. In our series, 50% of melanomas diagnosed during digital follow-up were detected by observation of a new lesion via TBP mapping or macroscopic changes in an existing lesion. Dermoscopic follow-up is essential in patients at high risk for melanoma as both melanocytic nevi and melanoma show a range of specific dermoscopic features, and a diagnosis of melanoma can only be based on a record of changes in the appearance of lesions during follow-up.

A 45-year-old woman presented with a solitary breast nodule that histologically corresponded to a dense dermal/subcutaneous infiltration of atypical cytotoxic T-lymphocytes (CD3+, CD8+, CD56+, TIA-1+, CD5-, CD4-, CD30-, EBV-), resembling subcutaneous panniculitic T-cell lymphoma. The presence of TCRδ gene rearrangement and the absence of βF1 expression let to suspect the diagnosis of primary cutaneous γδT-cell lymphoma. As a consequence of jejunum perforation following chemotherapy treatment, a mucosal atypical lymphoid infiltration with marked epitheliotropism was observed in the resected intestinal sample, and the diagnosis of monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL) was finally established. Disease progression appeared with multiple erythematous plaques showing a dense lichenoid atypical cytotoxic T-cell infiltrate with intense epidermotropism, mimicking primary cutaneous epidermotropic aggressive CD8+ T-cell lymphoma. MEITL is an uncommon and aggressive peripheral T-cell lymphoma that often presents in adults with gastrointestinal symptoms. Secondary cutaneous involvement is a rare phenomenon that may show clinicopathologic and immunohistochemical features that overlap with different subtypes of primary cutaneous cytotoxic T-cell lymphomas. In the absence of gastrointestinal symptoms, the diagnosis may be challenging, and only the evidence of underlying MEITL may allow to establish the definite diagnosis.

IL-15 has emerged as a potentially relevant target in the IL-17 response in psoriasis. However, its mechanism is poorly characterized in humans. IL-15 and IL-23 are constitutively expressed in the psoriatic lesion. Also, IL-15 is considered a susceptibility-associated gene in psoriasis, as are IL-23R, and HLACW6. Here, we studied the effect of IL-15 and IL-23 stimulation on the cytokine response of CLA+/CLA- T cells from 9 psoriasis patients and 3 healthy control subjects. To this end, CLA + and CLA- T cells from blood samples were cultured with epidermal cells from skin biopsies and treated with IL-15 and IL-23. After five days of culture, cytokines in supernatant were measured by ELISA or fluorescent bead-based immunoassay. There was a statistically significant increase in IL-17F and IL-17A production (P < .001) in cocultures of psoriasis skin-homing CLA + T cells with epidermal cells when stimulated with IL-15 and IL-23, but this effect was not observed in the cells of healthy controls. Interestingly, this response was reduced by around 50 to 80% by blocking HLA class I and II molecules. Our results point to the synergic action of IL-15 and IL-23 selectively for CLA + cells in psoriasis, leading to the induction of Th17 cell-related cytokines.

Background Mastocytosis encompasses a spectrum of disorders in which different organs and tissues are affected by the clonal expansion of mast cells. The skin is one of the most frequently affected organs. The clinical manifestations of mastocytosis are linked to the release of proinflammatory mediators, and the impact of this disorder on patient quality of life has been described in various studies. The Mastocytosis Quality of Life Questionnaire (MC-QoL), which was recently developed in Germany and now also exists in English, is an important tool for evaluating the psychosocial impact of this disease. Objective To create a Spanish version of the MC-QoL that was culturally equivalent to the original German questionnaire. Material and methods The adaptation process, which involved forward translation, cognitive interviews, and back translation, was conducted in accordance with the principles of good practice for the translation and cultural adaptation of patient-reported measures of the International Society for Pharmacoeconomics and Outcomes Research. The MC-QoL contains 27 items in 4 domains: symptoms, emotions, social life/functioning, and skin. Results The first version of the Spanish questionnaire, obtained by direct translation from German, was tested in cognitive interviews, after which 3 items were modified to make them easier to understand. The German back translation of the Spanish questionnaire was analyzed by the authors of the original MC-QoL, who modified 1 item they considered to have lost specificity in the adaptation process. The definitive Spanish MC-QoL was then produced following minor modifications agreed on with the German authors. Conclusions We have produced a cultural adaptation of the MC-QoL in Spanish that can be used in routine clinical practice to obtain a more complete picture of the impact of mastocytosis on patient quality of life.

Resumen Antecedentes El penfigo vulgar y foliaceo son enfermedades ampollares autoinmunes causadas por anticuerpos dirigidos contra la desmogleina 1 y/o 3. El tratamiento clasico son los glucocorticoides orales a dosis altas y otros inmunosupresores como azatioprina o micofenolato. El rituximab (RTX), un anticuerpo monoclonal anti-CD20, se ha mostrado eficaz en el tratamiento de estas entidades. Objetivos Evaluar el grado de respuesta a RTX (respuesta parcial/respuesta completa), el tiempo en alcanzarla, el tiempo hasta la recaida, la evolucion de los anticuerpos antidesmogleina 1/3 y los efectos adversos. Pacientes y metodo Estudio retrospectivo descriptivo unicentrico que incluye todos los pacientes diagnosticados de penfigo vulgar o penfigo foliaceo tratados con RTX y con un seguimiento postratamiento minimo de 6 meses. Resultados Se han incluido 6 pacientes (4 con penfigo vulgar y 2 con penfigo foliaceo) con un seguimiento medio de 84 meses. El total de ciclos de RTX administrados fue de 15, alcanzandose una respuesta completa en 7 ciclos, una respuesta parcial en 6 y sin respuesta en 1. Se objetivo una mejoria en la puntuacion Autoimmune Bullous Skin Disorder Intensity Score tanto en el apartado cutaneo (rango 0-150; media pre/pos-RTX 3,19/1) como en el mucoso objetivo (rango 0-11; media pre/pos-RTX 9,21/1,33). El tiempo hasta la recaida fue de 20,75 meses. Unicamente dos pacientes presentaron efectos adversos inmediatos leves durante la perfusion (cefalea e hipertension arterial). Discusion RTX es un farmaco efectivo y seguro en el tratamiento del penfigo y puede conseguir largos periodos de respuesta sin tratamiento o con minimo tratamiento concomitante, lo que permite evitar EA de la corticoterapia cronica.

The subtypes of chronic urticaria (CU) share a common clinical expression, but phenotypically may show differences. To evaluate sociodemographic and clinical differences in CU phenotypes, including: (1) isolated chronic spontaneous urticaria (CSU); (2) isolated chronic inducible urticaria (CIndU); (3) CSU with concomitant CIndU (CSU-CIndU); (4) CSU with single or multiple episodes; (5) early and late-onset CSU (

A 59-year-old woman presented with a persistent eruption manifested as multiple agminated miliary facial papules. Histopathological examination showed prominent nodular dermal lymphoid infiltrates with hyperplastic follicles that were initially interpreted as B-cell reactive lymphoid hyperplasia. Several years later, an additional biopsy showed a dense perifollicular infiltrate with reactive primary and secondary follicles. Accompanying T cells corresponded to CD3/CD4/PD1/CXCL13-positive cells and scattered Epstein-Barr virus-positive B cells were identified by in situ hybridization. A monoclonal T-cell population was demonstrated by TCRγ and TCRβ Polymerase Chain Reaction amplification, as well as a minor abnormal circulating T-cell population by flow cytometry (0.62% of the white blood cells, CD4+CD3s-CD7-). A biopsy specimen from an enlarged right supraclavicular lymph node disclosed nodal involvement by angioimmunoblastic T-cell lymphoma. The observation of B-cell dermal nodular infiltrates with well-demarcated lymphoid aggregates forming primary lymphoid follicles may lead to overlook the T-cell component in some cases of angioimmunoblastic T-cell lymphoma. In such cases, a careful assessment of the apparently minor T-cell component is important to establish a correct diagnosis.

A 57-year-old woman presenting an acquired and persisting palmoplantar keratoderma associated with primary biliary cholangitis is reported. Treatment with oral ursodeoxycholic acid was prescribed, and a complete and persistent resolution of skin lesions was noted. This observation seems to support that acquired palmoplantar keratoderma is an uncommon cutaneous manifestation of primary biliary cholangitis.

Pantoea agglomerans is a ubiquitous gram-negative bacterium that has been linked to skin and joint infections secondary to plant injuries. Herein we report a 58-year-old woman who presented with 2 erythematous nodules with purulent discharge on the anterior aspect of the right leg that developed after a penetrating plant injury. The patient was initially treated with amoxicillin-clavulanic acid, cloxacillin and clindamycin without improvement. P. agglomerans was isolated from both exudate and skin biopsy cultures. Healing of the lesions was achieved after the spontaneous release of a retained plant fragment and treatment with cotrimoxazole. Identification of P. agglomerans in persistent exudative lesions should alert the clinician regarding a possible previous plant injury and retained vegetal fragments. Conventional antibiotic treatment and the extraction of retained foreign bodies usually lead to complete resolution.

With COVID-19 mass vaccination, the spectrum of cutaneous reactions to mRNA COVID-19 vaccines described is increasing.1 While some of these clinical pictures are believed to have an allergic background, others may be related to the activation of pro-inflammatory immune responses.2,3 We present two cases of psoriasis associated to COVID-19 vaccination.