Manuel Ginarte

Prevalence of autosomal recessive congenital ichthyosis: A population-based study using the capture-recapture method in Spain

BACKGROUND Previous reports on the prevalence of autosomal recessive congenital ichthyosis (ARCI) were based on single source data, such as lists of members in a patient association. These sources are likely to be incomplete. OBJECTIVES We sought to describe the prevalence of ARCI. METHODS We obtained data from 3 incomplete sources (dermatology departments, a genetic testing laboratory, and the Spanish ichthyosis association) and combined them using the capture-recapture method. RESULTS We identified 144 living patients with ARCI. Of these, 62.5% had classic lamellar ichthyosis and 30.6% had congenital ichthyosiform erythroderma. The age distribution included fewer elderly patients than expected. The prevalence of ARCI in patients younger than 10 years, the best estimate as less subject to bias, was 16.2 cases per million inhabitants (95% confidence interval 13.3-23.0). According to the capture-recapture model, 71% of the patients were not being followed up in reference units, 92% did not have a genetic diagnosis, and 78% were not members of the ichthyosis association. LIMITATIONS The prevalence of ARCI in Spain and findings related to the Spanish health care system might not be generalizable to other countries. CONCLUSIONS The prevalence of ARCI is higher than previously reported. Many patients are not being followed up in reference units, do not have a genetic diagnosis, and are not members of a patient association, indicating room for improvement in their care. Data suggesting a reduced number of older patients might imply a shorter life expectancy and this requires further study.

Expression of growth hormone receptor in benign and malignant cutaneous proliferative entities

The skin has the necessary elements to respond to growth hormone (GH) and suffers clinical changes in the pathological circumstances of excess and deficiency of GH. The GH has been involved in the development of different types of human neoplasms. Based on these data, we have studied the GH receptor (GHR) expression in acrochordons, seborrheic keratosis, melanocytic nevi, histiocytomas, squamous cell carcinomas, basal cell carcinomas, and malignant melanomas by means of the immunohistochemistry with the monoclonal antibody MAb 263. All the entities showed immunoreactivity for GHR. In the histiocytomas, the expression of GHR in the keratinocytes of the hyperplastic epidermis coating the lesion showed a strong nuclear pattern, but the non‐hyperplastic epidermis of the edges of the histiocytomas expressed GHR with a cytoplasmic pattern. In the basal cell carcinoma and squamous cell carcinoma, the immunoreactivity was weaker than in normal skin. In the squamous cell carcinoma, the intensity of immunostaining correlated directly with the grade of cellular differentation. In conclusion, the GH may be involved in the development of different kinds of cutaneous neoplasms, and the intracellular localization of GHR may imply a functional significance, at least in the histiocytomas.

Imported paracoccidioidomycosis in Spain

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.

Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.

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.

Autosomal Recessive Congenital Ichthyosis

The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby, acral self-healing collodion baby, and bathing suit ichthyosis. The combined prevalence of LI and CIE has been estimated at 1 case per 138 000 to 300 000 population. In some countries or regions, such as Norway and the coast of Galicia, the prevalence may be higher due to founder effects. ARCI is genetically highly heterogeneous and has been associated with 6 genes to date: TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22, and ABCA12. In this article, we review the current knowledge on ARCI, with a focus on clinical, histological, ultrastructural, genetic, molecular, and treatment-related aspects.

Cutaneous polyarteritis nodosa in a child.

Abstract: 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.

Malignant Syphilis in an HIV-Infected Patient

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.

Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis

DEAR EDITOR, The term inherited ichthyosis subsumes numerous clinically and aetiologically heterogeneous cornification disorders with Mendelian inheritance patterns. Prior to January 2012, six genes had been identified as having loss-of-function mutations causing autosomal recessive congenital ichthyosis (ARCI): ABCA12, ALOX12B, ALOXE3, CYP4F22, NIPAL4 and TGM1. In a study of ALOX12B, ALOXE3, CYP4F22, NIPAL4 and TGM1 performed in 17 ARCI families in Galicia (NW

Plantar Infection by Scopulariopsis brevicaulis

A 42-year-old woman presented with a well-defined pruritic erythematous scaly plaque on the sole of each foot. The lesions, first noted about 15 years previously, were located in the medial plantar region and extended laterally. Mycological study revealed infection by Scopulariopsis brevicaulis. Treatment with oral itraconazole led to temporary improvement, but the symptoms returned after treatment had been stopped (presumably due to re-infection from ungual foci). Similar results were subsequently obtained with oral terbinafine. S. brevicaulis is an aetiologic agent of onychomycosis, panophthalmia following a penetrating eye injury and generalized infections in immunocompromised patients, but it is not considered as habitual fungal pathogen of the skin. Cutaneous lesions caused by S. brevicaulis are very rare. Our case was resistant to terbinafine and itracomazole.

Coexistence of Linear Porokeratosis and Disseminated Superficial Actinic Porokeratosis: A Type 2 Segmental Manifestation

Six main clinical forms of porokeratosis are recognized: classical porokeratosis or porokeratosis of Mibelli, punc-tate palmoplantar porokeratosis, linear porokeratosis (LP), disseminated superficial porokeratosis, dissemina-ted superficial actinic porokeratosis (DSAP), and disse-minated palmoplantar porokeratosis (1). The coexistence of more than one form in a single individual is infrequent. We describe here a 48-year-old woman who had a small LP lesion since infancy and developed DSAP in her fifth decade of life.CASE REPORTA 48-year-old Caucasian woman without relevant ante-cedents presented with pale rough-surfaced lesions on her forearms and legs, first noticed 4 years previously. Over the preceding 2 years they had become pruritic, particularly during the summer, when they increased in number. She had no family history of similar le-sions. Physical examination revealed small plaques 5–10 mm in diameter on the extensor surfaces of the forearms and legs, clearly delimited, rounded or oval, with lighter-coloured and slightly atrophic centres, and a hyperpigmented keratotic outer ring. These lesions were not confluent and did not show any clear spatial organization (Fig. 1A). In the right axillary region and extending towards the inner surface of the arm, the patient showed several lesions very similar to those on the forearms and legs, but more conspicuous and confluent, arranged in a linear pattern (Fig. 1B). The patient reported that she had had these lesions from childhood. Neither palmoplantar regions nor mucosal tissues were affected. Histopathological study of the linear lesion and one of the leg plaques confirmed the diagnosis of porokeratosis. The epidermis showed a compact column of parakeratotic cells with loss of granular layer, superficial mononuclear infiltration with areas of vacuolization in the basal layer, and presence of isolated melanophages in the papillary dermis. General examination did not detect any other manifestations, and the patient’s overall health was good. Standard biochemical analyses, immunological studies and haemograms likewise did not reveal patho-logical findings. Treatment was started with topical 0.1% tretinoin, once daily for 3 months. This treatment had a modest effect, and was changed to cryosurgery, with acceptable results to date. We continue to monitor the patient at periodic intervals.DISCUSSIONIn the patient described here, the lesions had developed 4 years previously, were slightly pruritic, worsened on exposure to sunlight, and had gradually increased in number; by contrast, the linear lesion had arisen in infancy, and was asymptomatic and unchanging. On physical examination the lesions on her legs and forearms were subtle and non-evident, while the linear lesion was much more evident. The coexistence of different clinical forms of poroke-ratosis in a single individual is uncommon (2, 3). There have been a few previously reported cases of association between LP and DSAP, mostly in children and young