Ángela Hernández-Martín

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X-linked ichthyosis is a genetic disorder of keratinization characterized by a generalized desquamation of large, adherent, dark brown scales. Extracutaneous manifestations include corneal opacity and cryptorchidism. Since 1978 it has been known that a deficit in steroid sulphatase enzyme (STS) is responsible for the abnormal cutaneous scaling, although the(More)
Propranolol has been used successfully in a limited number of children with infantile hemangiomas. This multicenter retrospective study describes the efficacy and adverse effects of propranolol in infantile hemangioma. Seventy-one infants with infantile hemangiomas were treated with oral propranolol, 1 mg/kg/12 hours, for at least 12 weeks. A photograph(More)
BACKGROUND Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by fragility and blistering of skin and mucous membranes. Clinical features combined with immunofluorescence antigen mapping and/or electron microscopy examination of a skin biopsy allow to define the EB type and subtype. Molecular diagnosis(More)
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(More)
BACKGROUND There is a paucity of evidence for the use of systemic agents in children with atopic eczema refractory to conventional therapy, resulting in considerable variation in patient management. OBJECTIVES The European TREatment of severe Atopic eczema in children Taskforce (TREAT) survey was established to collect data on current prescribing(More)
BACKGROUND Basal epidermolysis bullosa simplex (EBS) is a group of blistering genodermatoses mostly caused by mutations in the keratin genes, KRT5 and KRT14. Recessive mutations represent about 5% of all EBS mutations, being common and specific in populations with high consanguinity, where affected patients show severe phenotypes. OBJECTIVES To accomplish(More)
BACKGROUND Dystrophic Epidermolysis Bullosa (DEB) is a rare genodermatosis (7 cases per million) that causes blisters and erosions with minor trauma in skin and mucosa, and other systemic complications. A recently updated systematic review showed that the research evidence about DEB therapies is poor. As new trials in DEB are difficult and expensive, it is(More)
BACKGROUND Eosinophilic pustular folliculitis (EPF) of infancy is characterized by the presence of pustular lesions containing eosinophils. It is the least well-characterized of the EPF diseases. OBJECTIVES We sought to define the clinical and histopathologic features of the condition. METHODS We conducted a retrospective review of the clinical data and(More)
IMPORTANCE There is a limited therapeutic armamentarium for recalcitrant cases of childhood rosacea. OBSERVATIONS We report the case of a 12-year-old girl who presented with severe ocular and cutaneous rosacea unresponsive to oral doxycycline, oral isotretinoin, and topical tacrolimus. A biopsy specimen showed numerous mites within the folliculosebaceous(More)
The ectodermal dysplasias are a large group of hereditary disorders characterized by alterations of structures of ectodermal origin. Although some syndromes can have specific features, many of them share common clinical characteristics. Two main groups of ectodermal dysplasias can be distinguished. One group is characterized by aplasia or hypoplasia of(More)