Ángela Hernández-Martín

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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 Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a genodermatosis caused by more than 500 different mutations in the COL7A1 gene and characterized by blistering of the skin following a minimal friction or mechanical trauma.The identification of a cluster of RDEB pedigrees carrying the c.6527insC mutation in a specific area raises the question(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)
BACKGROUND Lymphomatoid papulosis is a rare lymphoproliferative T cell CD30+ disease with excellent prognosis which affects almost exclusively adult patients, being rarely in the childhood; thus the clinic and pathologic spectrum and the risk of evolution to another type of lymphoma are not well defined in the pediatric group. OBJECTIVE The aim of this(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)
LEOPARD syndrome is an autosomal dominant disease caused by germline mutations in the RAS-MAPK (mitogen-activated protein kinase) pathway. LEOPARD is an acronym for the main manifestations of the syndrome, namely, multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia,(More)
Pityriasis lichenoides (PL) is a skin disease of unknown origin that is characterized by scaling papules. It is relatively common in childhood but very rare in the first year of life, with just 9 cases described in the literature. We report the case of a 9-month-old boy with no personal or family history of interest who was seen in our department for(More)
Described here is the case of a girl with a reticulated capillary malformation on the right side of her face, along with Dyke-Davidoff-Masson syndrome, as evidenced by microphthalmia and severe associated anomalies in the right eye, and right cerebral hemispheric atrophy and cerebral arteries malformations. Capillary malformations are a novel finding for(More)
On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for other health care professionals involved in the care of patients with ichthyosis. The aim of the meeting was(More)
Question We report a series of cases with recurrent episodes of inflammatory subcutaneous nodules followed by fat atrophy in the affected area in children with fever, malaise, abdominal pain, hepatosplenomegaly, and some laboratory abnormalities that often persist beyond the febrile attacks of panniculitis. Patients Five children with the above mentioned(More)