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Terry nails and Lindsay nails are similar forms of proximal apparent leukonychia (PAL). A change in nail bed vascularity is thought to be responsible for PAL. The study was aimed at investigating the frequency of PAL in patients attending a liver disease clinic, the factors associated with its presence, its value for detecting cirrhosis, its prognostic value for mortality, and associated capillaroscopic findings. A total of 521 patients were included (age range, 18–94 years; 69% men). Systematic nail photographs were evaluated by 2 independent investigators. Disease-related data were obtained from the medical records. Mortality was evaluated after 7 years of follow-up. Nailfold capillaroscopy was performed on a subset of 80 patients. PAL was present in 228 patients (43.8%; Terry nails in 205, Lindsay nails in 20, and both in 3). The kappa-coefficient of interobserver agreement was 0.82. The presence of PAL was associated with cirrhosis and, accordingly, with portal hypertension and hepatocellular dysfunction. The positive likelihood ratio of PAL for the diagnosis of cirrhosis was 1.6 (95% CI 1.3–1.92). PAL was independently associated with chronic alcohol abuse and was not a significant predictor of mortality. Venous loop dilatation and prominence of the venous plexus were observed on capillaroscopy in patients with cirrhosis but were not significantly associated with PAL. In summary, PAL is a common finding in patients from a liver clinic; it is associated with liver cirrhosis and with alcohol abuse. PAL is not associated with specific capillaroscopic findings. We propose the generic term proximal apparent leukonychia instead of classic eponymous titles to avoid confusion in the literature.

Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22. In order to identify the molecular basis of ARCI among our patients (a cohort of ninety-two Spanish individuals) we performed a mutational analysis using direct Sanger sequencing in combination with a multi-gene targeted NGS panel. From these, eight ARCI families (three of them with Moroccan origin) were found to carry five different CYP4F22 mutations, of which two were novel. Computational analysis showed that the mutations found were present in highly conserved residues of the protein and may affect its structure and function. Seven of the eight families were carriers of a highly recurrent CYP4F22 variant, c.1303C>T; p.(His435Tyr). A 12Mb haplotype was reconstructed in all c.1303C>T carriers by genotyping ten microsatellite markers flanking the CYP4F22 gene. A prevalent 2.52Mb haplotype was observed among Spanish carrier patients suggesting a recent common ancestor. A smaller core haplotype of 1.2Mb was shared by Spanish and Moroccan families. Different approaches were applied to estimate the time to the most recent common ancestor (TMRCA) of carrier patients with Spanish origin. The age of the mutation was calculated by using DMLE and BDMC2. The algorithms estimated that the c.1303C>T variant arose approximately 2925 to 4925 years ago, while Spanish carrier families derived from a common ancestor who lived in the XIII century. The present study reports five CYP4F22 mutations, two of them novel, increasing the number of CYP4F22 mutations currently listed. Additionally, our results suggest that the recurrent c.1303C>T change has a founder effect in Spanish population and c.1303C>T carrier families originated from a single ancestor with probable African ancestry., This work was partially supported by Ramon Areces Foundation project (Rare Diseases 2013-056); by Spanish Instituto de Salud Carlos III (ISCIII) (INT15/00070, INT16/00154, INT17/00133) and by Xunta de Galicia (IN607B), given to A.V. U.E was supported by a predoctoral fellowship from Xunta de Galicia.

An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c.1187G > A, has been observed in the Ecuadorian province of Manabí. Recently, the same mutation has been detected in a Galician patient (Northwest of Spain). By analyzing patterns of genetic variation around this mutation in Ecuadorian patients and population matched controls, we were able to estimate the age of c.1187G > A and the time to their most recent common ancestor (TMRCA) of c.1187G > A Ecuadorian carriers. While the estimated mutation age is 41 generations ago (~1,025 years ago [ya]), the TMRCA of Ecuadorian c.1187G > A carrier haplotypes dates to just 17 generations (~425 ya). Probabilistic-based inferences of local ancestry allowed us to infer a most likely European origin of a few (16% to 30%) Ecuadorian haplotypes carrying this mutation. In addition, inferences on demographic historical changes based on c.1187G > A Ecuadorian carrier haplotypes estimated an exponential population growth starting ~20 generations, compatible with a recent founder effect occurring in Manabí. Two main hypotheses can be considered for the origin of c.1187G > A: (i) the mutation could have arisen in Spain >1,000 ya (being Galicia the possible homeland) and then carried to Ecuador by Spaniards in colonial times ~400 ya, and (ii) two independent mutational events originated this mutation in Ecuador and Galicia. The geographic and cultural characteristics of Manabí could have favored a founder effect that explains the high prevalence of TGM1 c.1187G > A in this region.

Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phenotypes including: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While pathogenic variants in all ARCI genes are associated with LI and CIE phenotypes, the unique gene associated with HI is ABCA12. In HI, the most severe ARCI form, pathogenic variants in both ABCA12 gene alleles usually have a severe impact on protein function. The presence of at least one non-truncating variant frequently causes a less severe congenital ichthyosis phenotype (LI and CIE). METHODS: We report the case of a 4-year-old Ecuadorian boy with a severe skin disease. Genetic diagnosis was performed by NGS. In silico predictions were performed using Alamut software v2.11. A review of the literature was carried out to identify all patients carrying ABCA12 splice-site and missense variants, and to explore their genotype-phenotype correlations. RESULTS: Genetic testing revealed a nonsense substitution, p.(Arg2204*), and a new missense variant, p.(Val1927Leu), in the ABCA12 gene. After performing in silico analysis and a comprehensive review of the literature, we conclude that p.(Val1927Leu) affects a well conserved residue which could either disturb the protein function or alter the splicing process, both alternatives could explain the severe phenotype of our patient. CONCLUSION: This case expands the spectrum of ABCA12 reported disease-causing variants which is important to unravel genotype-phenotype correlations and highlights the importance of missense variants in the development of HI. © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. Fundación Ramón Areces Instituto de Salud Carlos III Xunta de Galicia Universidad Espíritu Santo-Ecuador

Resumen Las ictiosis congenitas autosomicas recesivas (ICAR) son trastornos infrecuentes de la queratinizacion que se engloban en las formas no sindromicas de ictiosis. Clasicamente se distinguian en este grupo la ictiosis laminar (IL) y la eritrodermia ictiosiforme congenita (EIC). Actualmente se incluyen tambien la ictiosis arlequin, el bebe colodion autorresolutivo, el bebe colodion autorresolutivo acral y la ictiosis en traje de bano. Se ha estimado una prevalencia conjunta para IL y EIC de 1:138.000-1:300.000. En algunos paises o regiones, como Noruega y la costa gallega, la prevalencia podria ser mayor debido a la existencia de efectos fundadores. Desde el punto de vista genetico son muy heterogeneas. Seis genes se han asociado a estas entidades: TGM1 , ALOXE3 , ALOX12B , NIPAL4 , CYP4F22 y ABCA12 . En este trabajo se pretenden revisar los conocimientos actuales en el campo de las ICAR, incluyendo aspectos clinicos, histologicos, ultraestructurales, genetico-moleculares y de tratamiento.

Scleroderma-like cutaneous changes have been reported in association with several drugs, but not with hydroxyurea (HU), to our knowledge. We report the case of a 67-year-old man who was treated with HU (hydroxycarbamide) for 12 years for a myeloproliferative disorder, and presented a progressive pruritic woody induration, symmetrically affecting both legs. He also had Gottron-like papules on the back of the metacarpophalangeal joints, and a retroauricular undifferentiated squamous cell carcinoma. On histological examination of a skin biopsy taken from the leg, massive dermal fibrosis was seen, with thickening of collagen bundles throughout the entire dermis. Six months after HU withdrawal, the skin induration resolved without scarring. Scleroderma-like syndrome has not been previously considered one of the secondary effects of HU. The evolution of our patient's condition supports a causal relationship between the HU treatment and the sclerodermiform changes of the skin. © The Author(s). CED © 2012 British Association of Dermatologists.

Background Autosomal recessive congenital ichthyosis (ARCI) is a rare, nonsyndromic, heterogeneous disorder of cornification. It is divided into three clinical subtypes: lamellar ichthyosis (LI); congenital ichthyosiform erythroderma; and harlequin ichthyosis. In the majority of patients, LI is caused by transglutaminase-1 (TGase1) deficiency resulting from mutations in both copies of the transglutaminase 1 (TGM1) gene in chromosome 14. Case report We report a patient with a severe LI phenotype who has a homozygous putative splicing mutation in the TGM1 gene. Our aim is to assess the pathologic effect of the TGM1 c.984+1G>A by splicing assays and bioinformatic tools. Results c.984+1G>A mutation created two alternative TGM1 mRNA splice variants that included 30 or 32 nucleotides of the 5′ of intron 6. At the protein level, the partial in-frame aberrant transcript retaining 30 bp of intron 6 led to the insertion of 10 amino acids (p.Met329_Val330ins10) at the catalytic core domain of TGM1 protein (codons 247-572), whereas the transcript with the insertion of 32 nucleotides is predicted to encode a truncated protein (p.Val330MetfsX12). Conclusion Our splicing assay, together with bioinformatic prediction tools, supports the pathological effect of the recently identified c.984+1G>A mutation in the TGM1 gene and unravels the molecular mechanism by which c.984+1G>A acts. © 2012 The International Society of Dermatology.

Summary Background Mutations in six genes have been identified in autosomal recessive congenital ichthyosis (ARCI). To date, few studies have analysed the spectrum of these mutations in specific populations. Objectives We have studied the characteristics of patients with ARCI in Galicia (NW Spain). Methods We recruited patients by contacting all dermatology departments of Galicia and the Spanish patient organization for ichthyosis. TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 were analysed in the patients and their relatives. Results We identified 23 patients with ARCI and estimated a prevalence of 1 : 122 000. Twenty of the patients were studied. Seventeen of them were clinically categorized as having lamellar ichthyosis (LI) and three as having congenital ichthyosiform erythroderma (CIE). TGM1 and ALOXE3 mutations were identified in 12/16 (75%) probands whereas no ALOX12B, NIPAL4 and CYP4F22 mutations were found. TGM1 mutations were found in 11/13 (85%) of LI probands. ALOXE3 mutations were identified in a single patient with CIE. Remarkably, mutations p.Arg760X, p.Asp408ValfsX21 and c.984+1G>A of TGM1 were present in six, four and two families, accounting for 41%, 23% and 14% of all TGM1 mutant alleles, respectively. Conclusions The high percentage of patients with the same TGM1 mutations, together with the high number of homozygous probands (64%), indicates the existence of a strong founder effect in our population.

Background Suspected toenail onychomycosis is a frequent problem. Clinical diagnosis has been considered inadequate. Objectives To assess the diagnostic accuracy of clinical findings for detecting fungi in toenails, and to develop and validate a clinical diagnostic rule aimed at improving dermatologists’ diagnosis of onychomycosis. Methods A cross-sectional diagnostic study was performed including a total of 277 patients seen by 12 dermatologists. The gold standard was the presence of dermatophytes on culture or a positive nail plate biopsy. For each sign we described prevalence, sensitivity, specificity, positive and negative predictive values, and likelihood ratios for positive and negative results. We developed a diagnostic clinical rule and validated it in a subsample. Results Helpful findings to predict the presence of fungi are: previous diagnosis of fungal disease; abnormal plantar desquamation (affecting > 25% of the sole); onychomycosis considered the most probable diagnosis by a dermatologist; and presence of interdigital tinea. When dermatologists considered onychomycosis the most probable diagnosis and plantar desquamation was present (13% of patients), the positive predictive value for presence of fungi was 81%. When both signs were absent (34% of patients), the positive predictive value for absence of fungi was 71%. In other situations, clinical diagnosis might not give enough information to decide on therapy. Conclusions In 13% of the patients (a large number in absolute terms), when dermatologists consider onychomycosis the most probable diagnosis and plantar desquamation is present, therapy should be started without any further test, as clinical diagnosis is at least as accurate as laboratory tests. In other situations, an optimal management strategy should be defined.

Resumen: Introducción: El molusco contagioso (MC) es una infección cutánea viral causa frecuente de consulta. El objetivo de este estudio es evaluar los casos vistos en nuestro Servicio, analizar los datos epidemiológicos y el tratamiento pautado. Pacientes y método: Estudio descriptivo, entre el 16 de junio de 2008 y el 15 de enero de 2009, de los pacientes que acudieron con MC al Servicio de Dermatología del Complejo Hospitalario Arquitecto Marcide-Novoa Santos, Ferrol, España. En cada caso se recogieron los siguientes datos: sexo, edad, atopia, asistencia a piscina, número de lesiones y tratamiento. Resultados: Se seleccionó a 140 pacientes con MC. La edad media fue de 10,7 años. El 51,43% de los pacientes presentaba atopia y el 72,1% acudía a la piscina. La media del número de lesiones fue de 13,3, mayor en varones, pacientes con atopia y usuarios de piscina. El tratamiento consistió en legrado en el 86,4% de los casos. Conclusiones: Los niños con dermatitis atópica y los que acuden a piscina presentan MC con más frecuencia y en mayor número. Aunque la opción terapéutica es individualizada en función del paciente y las capacidades del médico, el legrado es la más empleada. Abstract: Introduction: Molluscum contagiosum is a cutaneous viral infection that often requires assistance. The aim of our study is to review the cases admitted in our clinic, evaluate the epidemiological features and the treatment prescribed. Patients and methods: We conducted a descriptive survey of the patients diagnosed of molluscum contagiosum in our clinic (Complexo Hospitalario Arquitecto Marcide-Novoa Santos, Ferrol, Spain) between June 16th 2008 and January 15th 2009. The following dates were recorded in all cases: age, sex, personal history of atopy, swimming pool attendance, number of lesions and treatment prescribed. Results: 140 cases of molluscum contagiosum were included in the study. Average age was 10.7 years. 51.43% of patients had a personal history of atopy and 72.1% used to attendance swimming-pool. Average number of lesions was 13.3, with a higher number of them in males, atopic and swimming-pool attendants. Curettage was the treatment performed in 86.4% of cases. Conclusions: Atopic dermatitis and swimming-pool attendance were associated in our study with a higher frequency and number of molluscum contagiosum. Although different therapeutic options must be evaluated depending on the patient and clinical skills, curettage is the most frequent treatment performed by dermatologists.

Background: Ulceration and osteoclast-like giant cells are two pathological features uncommonly seen in dermatofibromas. To our knowledge, the presence of these features has not been previously described within the same lesion. Methods: We report the clinical, histopathological and immunohistochemical findings of a 38-year-old man with an ulcerated dermatofibroma (DF) on the sole containing OLGC. Comments: DF, or cutaneous fibrous histiocytoma, is a frequent dermatological lesion with many clinicopathological variants. Therefore, a correct diagnosis is not always straightforward, especially when two rare features co-exist in the same lesion. Differential diagnosis was performed with cutaneous and even non-cutaneous lesions. An explanation for the clinicopathological findings is also described.

Sweet's syndrome represents the epitome of the neutrophilic dermatosis, a group of reactive cutaneous diseases characterized histopathologically by the existence of an infiltrate composed by neutrophils. Clinically, it is characterized by the abrupt onset of tender or painful plaques accompanied by fever, general malaise, and neutrophilic leukocytosis. Sweet's syndrome is a marker of several internal conditions, especially infections, inflammatory bowel disease, autoimmune disorders, and malignant neoplasm (predominantly of hematological origin). Sweet's syndrome reflects a neutrophilic reaction that affects the skin and sometimes internal organs. For this reason it is important to reach a correct diagnosis and assess appropriately both the triggering factors and the concomitant internal involvement. There are several therapeutic approaches that achieve either the resolution or the satisfactory management of this condition.

Cutaneous polyarteritis nodosa (CPAN) is a benign form of vasculitis of small and medium-size arteries with a recurrent but benign course without systemic involvement. This entity is very rare in children, with about 45 cases described in the literature we reviewed. Herein we report a 10-year-old girl with typical CPAN. Trigger factors such as streptococcal infection were not detected. Of four episodes over the last 2 years, only one required treatment with a moderate-sized oral dose of prednisone. In diagnosing CPAN, it is necessary to rule out systemic polyarteritis nodosa, which is also rare in children, as well as other panniculitides and vasculitides.

Resumen Introduccion La escrofulodermia se produce por la extension directa a la piel de un foco tuberculoso subyacente a nivel oseo, articular o incluso del epididimo, pero sucede con mayor frecuencia sobre un ganglio linfatico, sobre todo los cervicales. Metodos Analizamos todos los casos de escrofulodermia de origen oseo o articular vistos en el area sanitaria de Ferrol, poblacion actual de 220.000 habitantes, en un periodo de 15 anos. Describimos los datos clinicos, histopatologicos y microbiologicos de los pacientes. Resultados Encontramos 6 casos de escrofulodermia con tuberculosis osteoarticular. Esta serie incluye 5 varones y una mujer, de entre 37 y 80 anos de edad. Se encontro afectacion de organos internos en tres pacientes (50 %). Conclusion La tuberculosis osteoarticular constituye el 10 % de todas las infecciones tuberculosas extrapulmonares. Hay una alta probabilidad de afectacion interna en pacientes con escrofulodermia. Se debe descartar afectacion osea subyacente en todos los pacientes con escrofulodermia, sobre todo en los que muestran una respuesta incompleta al tratamiento medico.

Patients with HIV infection may develop common diseases with atypical clinical features. HIV infection may change the classic clinical course of syphilis and increase the incidence of a subtype of secondary syphilis named malignant syphilis. A homosexual patient with HIV infection consulted us about a one-month history of general malaise and widespread cutaneous ulcerative lesions, some with thick hemorrhagic crusts. Serology for syphilis was positive at high titers. Based on clinical, histological and serological findings, a diagnosis of malignant syphilis was made and the patient started treatment with penicillin G benzathine with progressive resolution of lesions. Malignant syphilis is a rare subtype of secondary syphilis that presents special clinical and histological features and has been associated with several processes characterized by variable degrees of immunosuppression. It is necessary to take into account this entity among the possible diagnoses in HIV-infected patients with cutaneous lesions.

Introduction Scrofuloderma results from direct extension of an underlying tuberculous focus such as bone, joint or even the epydidimus to the overlying skin, but is more frequent over a lymph node, mainly in the cervical region. Methods We analysed all cases of scrofuloderma with a bone or joint focus evaluated in the sanitary area of Ferrol, with a current population of 220,000, during a 15-year period. We describe the clinical, histopathological, and microbiological data of patients. Results We found 6 cases of scrofuloderma with osteoarticular tuberculosis. This series includes five men and one woman, aged 37 to 80. Visceral involvement was found in 3 patients (50%). Conclusion Osteoarticular tuberculosis comprises 10% of all extrapulmonary tuberculous infections. There is a high probability of visceral involvement in patients with scrofuloderma. Underlying bone involvement should be rule out in all patients with scrofuloderma, especially in those with incomplete response to medical treatment.

Dermatomyositis is a connective tissue disease which has several factors involved in its etiology. Recently, the existence of a sub-type called amyopathic dermatomyositis has been accepted, whose cutaneous manifestations are indistinguishable from the ones that appear in the classic form of the disease. However, it is different from the classic form in that clinical findings of muscular involvement are initially absent. The association of these two sets of symptoms with the possible presence of an underlying neoplastic process has been described on numerous occasions, and has been the subject of extensive debate. We present three patients with amyopathic dermatomyositis, two males aged 27 and 45 and a female aged 54, the latter associated with a malignant process, and we discuss and review the main differential features of the entity and its relationship with different types of neoplasms.

The report deals with three patients, who developed paracoccidioidomycosis in Europe after having been in South America 50, 25 and 38 years before, respectively. The conditions for the long period of quiescent infection and for the late manifestations are discussed.

Systemic photosensitivity due to the intake of plants or herbal compounds is a rare phenomenon. Goji berries are widely used as a well-being and anti-aging remedy. In spite of this, only a few adverse reactions and no cases of photosensitivity have been reported to date. A 53-year-old male consulted due to a pruriginous eruption located on sun-exposed areas of 2 weeks of duration. He had been taking Goji berries and infusions of cat's claw herb for 5 and 3 months, respectively. Minimal erythema dose for UVB (MED-UVB) was diminished when the patient was taking these products, and became normal when they were withdrawn. Photoprovocation tests with Goji berries and cat's claw were performed. MED-UVB decreased after the intake of Goji berries, and was normal with cat's claw. We report the first case of systemic photosensitivity due to Goji berries.

The majority of lip cancer is the squamous cell carcinoma (SCC) type that exhibits clinical and biological characteristics intermediate between skin and oral SCC. The aim of this study was to assess the impact of epidermal growth factor receptor (EGFR) expression on prognosis of lip squamous cell carcinoma (LSCC) and to relate it with clinicopathological features. The role of EGFR expression as a possible therapeutic target was also discussed.A series of 55 patients with LSCC was analyzed. EGFR expression was determined by standardized immunohistochemistry (pharmDx assay) and evaluated by both manual and automated image analysis (ACIS III). The Kappa statistic test was used to evaluate the concordance of manual and automated scores. EGFR results were correlated with clinicopathologic characteristics. Statistical differences between proportions were determined by the chi-squared test (with linear-by-linear correction where appropriate). The Mann-Whitney and the Kruskal-Wallis test were employed for comparison of continuous variables.Correlation between manual and automated score was obtained in 50/55 cases (90.9%). EGFR expression was absent or weak in 14 cases (25.5%); borderline (2+) in 20 cases (36.4%) and positive (3+) in 21 cases (38.2%). Significant relationships were found between EGFR expression and tumour ulceration (p=0.022) and tumour thickness (p=0.002) and width (p=0.021).Our results revealed EGFR high expression in LSCC and its relationship with bad prognosis criteria (tumour size and ulceration).

We report three patients, two infants and an adult, in whom their tinea capitis clinically appeared as pityriasis amiantacea. The mycological studies showed infection due to Microsporum canis in all cases. Correct diagnosis as well as adequate antimycotic chemotherapy of this atypical manifestation of tinea capitis remain a challenge to the clinician. Epidemiological aspects must be regarded also.

Malignant neoplasms from natural killer (NK) cells are characterized by their positivity for CD56 and absence of monoclonal TCR gene rearrangement. Recently, they have been classified into four main types (nasal and nasal-type NK cell lymphoma, aggressive NK cell leukemia/lymphoma, and blastoid NK cell leukemia/lymphoma), based on clinical features, racial predisposition, presence of azurophilic granules, immunophenotype and association with Epstein-Barr virus (EBV) infection. A 72-year-old Caucasian man presented with a malignant neoplasm comprised of blastoid cells without azurophilic granules in the Giemsa stain, with positivity for CD2, CD4, HLA-DR, CD45 and CD56, and negativity for CD3 (surface and cytoplasmic) and CD5. In situ hybridization for EBV and PCR analysis of rearrangement of the T cell receptor gene were negative. Based on these results, a diagnosis of blastoid NK cell lymphoma was made. In this case the first clinical manifestations were the cutaneous lesions, and, although the disease was already advanced at the diagnosis, the patient responded completely to the treatment and remains asymptomatic 14 months after diagnosis.

A 70-year-old woman presented with a 10-year history of cutaneous lesions on her calves that worsened with solar exposure. Her past medical history was irrelevant. Physical examination revealed 10–15 erythematous, firm nodules with a diameter of 2–5 mm, which were slightly painful on palpation. The lesions were located on both calves, although some elements extended to the posterior side of the thighs ( Fig. 1). General physical examination did not show any abnormalities. A biopsy specimen from one of the elements showed a normal epidermis and, in the upper dermis, a slight inflammatory infiltrate of mononuclear cells, with the presence of splits between collagen fibers ( Fig. 2). Alcian blue stain at pH 2.5 revealed the existence of mucinous material in these spaces ( Fig. 3). An electron microscopic study did not show any abnormalities. Figure 1. Clinical appearance of the lesions Figure 2. Histopathologic picture (hematoxylin and eosin, ×40) Figure 3. Alcian blue stain showing the presence of mucin in the dermis (Alcian blue, ×100) The patient was diagnosed as having papular mucinosis. The following studies were normal or negative: complete cell blood count, serum biochemistry, serum protein electrophoresis, serum immunoelectrophoresis, serologic test for human immunodeficiency virus (HIV), hepatitis B and C viruses, and syphilis, antinuclear antibodies, and thyroid hormone levels. No treatment was carried out.

Sr. Director: Los tumores glomicos constituyen un grupo de neoplasias relativamente raras. Pueden ser solitarios o multiples. Estos ultimos constituyen menos del 10 % de todos los casos y clasicamente se dividian en formas diseminadas y localizadas1,2; en 1990 se anadio una nueva forma denominada glomangioma congenito en placa descrita por Landthaler et al3. Posteriormente, en 1998 Requena et al4 describieron una algunos estudios inmunohistoquimicos y de tecnicas de hibridacion in situ se demuestra un incremento de la expresion de la proteina p27Kip1 (inhibidora de la cinasa-2 ciclino-dependiente, reguladora del ciclo celular de la fase G1 a la S, y de la migracion celular) en los queratinocitos epidermicos tras el tratamiento con C225. Este hecho esta relacionado con una alteracion de la regulacion in vivo de la homeostasis folicular y epidermica mediada por el EGFR, que provoca la aparicion de la erupcion acneiforme5,12,13. Los cultivos no muestran un agente infeccioso causante, siendo este un criterio que apoya en el diagnostico3,4,5,8,9. El estudio histopatologico de las lesiones muestra un patron de reaccion folicular que consiste en un intenso infiltrado inflamatorio neutrofilico que rodea los infundibulos5,12, los cuales se muestran en ocasiones hiperqueratosicos6. El diagnostico diferencial debe establecerse con erupciones foliculares de inicio brusco, ya sean entidades establecidas o reacciones farmacologicas; entre estas ultimas las mas frecuentes son las producidas por vitamina B12, corticosteroides, androgenos, litio, tuberculostaticos, halogenos, algunos antidepresivos triciclicos, anticonvulsivantes e inmunosupresores. La erupcion responde habitualmente a tetraciclinas como la minociclina a la dosis 100 mg diarios, o la doxiciclina tambien a la dosis de 100 mg diarios, aunque actualmente no existe un consenso sobre la duracion del tratamiento3,9,10,14. Las recurrencias son relativamente frecuentes, aunque menos intensas que el episodio inicial. Dado el incremento de los tratamientos biologicos en diversas especialidades, esta es una entidad que veremos aparecer cada vez mas en la consulta dermatologica diaria y por ello, el dermatologo debe sospecharla desde el inicio de la anamnesis, evitando en muchos de los casos la realizacion de pruebas agresivas como la biopsia. Respecto al tratamiento, las tetraciclinas son en la actualidad el de eleccion y existen pocas referencias sobre el exito terapeutico con alternativas como metronidazol, empleado en nuestro caso, y otros antibioticos de accion sistemica.

Glomus tumors comprise a group of relatively rare neoplasms. They may be either solitary or multiple. The latter constitute less than 10% of all cases, and in the traditional classification they were divided into disseminated and localized forms.1,2 In 1990, another form, called congenital multiple plaquelike glomus tumors, was described by Landthaler et al.3 Subsequently, in 1998, Requena et al4 described a rare variety cellular migration) in epidermal keratinocytes following treatment with C225. This is related to a change in the in vivo regulation of follicular and epidermal homeostasis mediated by EGFR, leading to the appearance of the acneiform eruption.5,12,13 Cultures fail to show an infectious agent as the cause of the eruption, a factor which supports the diagnosis.35,8,9 The histopathologic study of the lesions shows a follicular reaction consisting of an intense neutrophilic inflammatory infiltrate surrounding the infundibuli,5,12 which sometimes appear hyperkeratotic.6 A differential diagnosis should be established with rapid-onset follicular eruptions, whether they are established entities or drug reactions; among the most common drug reactions are those produced by vitamin B12, corticosteroids, androgens, lithium, tuberculostatic drugs, halogens, some tricyclic antidepressants, anticonvulsive drugs, and immunosuppressors. The eruption usually responds to tetracyclines such as minocycline at 100 mg/d, or doxycycline at the same dose. Currently no consensus exists as to the duration of treatment.3,9,10,14 Recurrence is relatively frequent, although less intense than the initial episode. In view of the increased use of biological therapy in a variety of specialties, we can expect to see this entity with increased frequency in everyday dermatological practice. Dermatologists should therefore consider it as soon as the patient’s history is taken, thus avoiding invasive tests such as biopsy in many cases. Tetracyclines are currently the treatment of choice and there have been few reports of therapeutic success with alternatives such as metronidazole, used in the present case, or other systemic antibiotics.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare inherited condition that includes characteristic eyelid malformations and sometimes reduced fertility in females. Genetic studies have implicated mutations in the forkhead transcription factor FOXL2 as responsible for BPES. We report a female and her father with BPES type I, who presented the 1092-1108dup17 mutation in the FOXL2 gene. Molecular studies and the typical clinical features of BPES should allow the dermatologist to reach an early diagnosis and permit the treatment of eyelid alterations and the investigation of infertility.

There are several reports of porokeratosis in the context of immmunosuppressive diseases. These mainly include organ transplant, HIV infection, lymphomas and some inflammatory and autoimmune diseases commonly treated with immunosuppresive drugs or chemotherapy. Disseminated superficial actinic porokeratosis is the clinical variant of porokeratosis that most frequently develops in immunosuppressive states. We report a case of porokeratosis in a woman with dermatomyositis.