ABSTRACT
No disponible
Subject(s)
Humans , Female , Aged, 80 and over , Tuberculosis, Cutaneous/diagnosis , Nail Diseases/diagnosis , Mycobacterium tuberculosis/isolation & purification , Tuberculosis, Cutaneous/pathology , Nail Diseases/microbiology , Nail Diseases/pathologyABSTRACT
Subungual tumors are rare in general. Of all tumors, subungual squamous cell carcinoma (SSCC) is the most frequent one. Protean clinical presentations and the lack of awareness of the disease are responsible for an incorrect or delayed diagnosis and subsequent delayed treatment. We have reported here four patients with SSCC who were previously wrongly diagnosed with a benign process and treated unsuccessfully for years. We would like to highlight the need of a biopsy in chronic or recurrent nail lesions that fail to respond to a previous conservative treatment in order to rule out SSCC.
ABSTRACT
Although traditionally observed in patients with end-stage renal disease and secondary hyperparathyroidism, calciphylaxis has been reported in patients with normal renal and parathyroid function. There is no evidence-based therapy available. The use of sodium thiosulfate (STS) has been increasingly described. Herein we describe two patients who responded well to this treatment.
Subject(s)
Calciphylaxis/drug therapy , Thiosulfates/therapeutic use , Acenocoumarol/adverse effects , Acenocoumarol/therapeutic use , Aged , Aged, 80 and over , Atrial Fibrillation/drug therapy , Atrial Fibrillation/epidemiology , Calciphylaxis/diagnosis , Calciphylaxis/epidemiology , Calciphylaxis/etiology , Comorbidity , Diabetes Mellitus, Type 2/epidemiology , Drug Substitution , Female , Heparin, Low-Molecular-Weight/therapeutic use , Humans , Hyperparathyroidism, Secondary/complications , Livedo Reticularis/epidemiology , Obesity/epidemiology , Peripheral Vascular Diseases/epidemiology , Risk Factors , Shock, Septic/etiology , Thiosulfates/pharmacology , Urinary Tract Infections/complications , Vitamin D Deficiency/complicationsABSTRACT
Porokeratoma (acanthoma with features of porokeratosis) is a recently described entity with a distinct pattern of cornoid lamellation and clinically different from typical porokeratosis. We present a case of multiple porokeratomas on the buttock of a 78-year-old man with paraplegia secondary to poliomyelitis and ankylosing spondylarthritis. We briefly review the characteristics and controversies of this new entity.
ABSTRACT
El bebé colodión se caracteriza por la presencia de una membrana que cubre la totalidad de la piel del recién nacido. La mayoría de los niños que presenta esta membrana desarrolla ictiosis, siendo la eritrodermia ictiosiforme congénita no ampollar la forma más frecuente, seguida de la ictiosis lamelar y la ictiosis vulgar. No existen características clínicas ni histológicas que sirvan de guía para predecir el diagnóstico final. Estos niños presentan complicaciones debido a las alteraciones de la función de barrera de la piel, como deshidratación hipernatrémica, hipotermia e infecciones cutáneas y sistémicas. Sin embargo el pronóstico de este cuadro ha mejorado en los últimos años debido a los mejores cuidados intensivos neonatales. Presentamos tres casos de bebé colodión evaluados en el servicio de Dermatología del Complejo Hospitalario de Pontevedra (España) y describimos sus características clínicas, tratamientos, complicaciones, pruebas complementarias realizadas y diagnóstico final. A pesar de que el bebé colodión es un fenotipo infrecuente, destacamos la importancia de conocer su tratamiento, así como los diferentes procesos a los que puede dar lugar...
Collodion baby consists on a membrane covering the whole body surface of a newborn. Most children born as collodion baby develop ichthyosis, being the most frequent the non-bullous congenital ichthyosiform erythroderma, followed by lamellar ichthyosis and ichthyosis vulgaris. There are no distinctive clinical or histological features that can be used to predict the final diagnosis. These children have complications due to the impaired barrier function, such as hypernatraemic dehydration, hypothermia, or cutaneous and systemic infections. However the prognosis has dramatically improved over time with the development of neonatal intensive care. We present three cases of collodion baby seen at the Dermatology Service of the Pontevedra Hospital Complex (Spain) and describe their clinical characteristics, treatments, complications, diagnostic procedures and final diagnoses. Despite collodion baby is an uncommon entity, we highlight the importance of knowing its treatment and the different processes that may arise from it...
Subject(s)
Humans , Male , Infant , Ichthyosiform Erythroderma, Congenital , Ichthyosis, LamellarABSTRACT
El bebé colodión se caracteriza por la presencia de una membrana que cubre la totalidad de la piel del recién nacido. La mayoría de los niños que presenta esta membrana desarrolla ictiosis, siendo la eritrodermia ictiosiforme congénita no ampollar la forma más frecuente, seguida de la ictiosis lamelar y la ictiosis vulgar. No existen características clínicas ni histológicas que sirvan de guía para predecir el diagnóstico final. Estos niños presentan complicaciones debido a las alteraciones de la función de barrera de la piel, como deshidratación hipernatrémica, hipotermia e infecciones cutáneas y sistémicas. Sin embargo el pronóstico de este cuadro ha mejorado en los últimos años debido a los mejores cuidados intensivos neonatales. Presentamos tres casos de bebé colodión evaluados en el servicio de Dermatología del Complejo Hospitalario de Pontevedra (España) y describimos sus características clínicas, tratamientos, complicaciones, pruebas complementarias realizadas y diagnóstico final. A pesar de que el bebé colodión es un fenotipo infrecuente, destacamos la importancia de conocer su tratamiento, así como los diferentes procesos a los que puede dar lugar...(AU)
Collodion baby consists on a membrane covering the whole body surface of a newborn. Most children born as collodion baby develop ichthyosis, being the most frequent the non-bullous congenital ichthyosiform erythroderma, followed by lamellar ichthyosis and ichthyosis vulgaris. There are no distinctive clinical or histological features that can be used to predict the final diagnosis. These children have complications due to the impaired barrier function, such as hypernatraemic dehydration, hypothermia, or cutaneous and systemic infections. However the prognosis has dramatically improved over time with the development of neonatal intensive care. We present three cases of collodion baby seen at the Dermatology Service of the Pontevedra Hospital Complex (Spain) and describe their clinical characteristics, treatments, complications, diagnostic procedures and final diagnoses. Despite collodion baby is an uncommon entity, we highlight the importance of knowing its treatment and the different processes that may arise from it...(AU)
Subject(s)
Humans , Male , Infant , Ichthyosis, Lamellar , Ichthyosiform Erythroderma, CongenitalABSTRACT
BACKGROUND: Hypochondroplasia (HCH) is a skeletal dysplasia inherited in an autosomal dominant manner due, in most cases, to mutations in the fibroblast growth factor receptor 3 (FGFR3). Acanthosis nigricans (AN) is a velvety and papillomatous pigmented hyperkeratosis of the skin, which has been recognized in some genetic disorders more severe than HCH involving the FGFR3 gene. OBJECTIVE AND DESIGN: After initial study of the proband, who had been consulted for short stature and who also presented AN, the study was extended to the patient's mother and to 12 additional family members. METHODS: Clinical, biochemical and radiological studies were performed on the family. In addition, exons 11 and 13 of FGFR3 were analyzed. RESULTS: The proband and ten relatives presented HCH plus AN and the analysis of FGFR3 showed the p.Lys650Thr mutation. The members with normal phenotypes were non-carriers of the mutation. CONCLUSION: This is the first report of a large pedigree with the clinical phenotype of HCH plus AN due to a FGFR3 mutation, p.Lys650Thr. This finding demonstrates the coexistence of both conditions due to the same mutation and it might represent a true complex, which should be further established by searching for AN in mild HCH patients or for HCH in patients with AN.
Subject(s)
Acanthosis Nigricans/complications , Acanthosis Nigricans/genetics , Mutation, Missense , Osteochondrodysplasias/complications , Osteochondrodysplasias/genetics , Receptor, Fibroblast Growth Factor, Type 3/genetics , Adolescent , Amino Acid Substitution/genetics , Base Sequence , Body Height/genetics , DNA Mutational Analysis , Humans , Lysine/genetics , Male , Mutation, Missense/physiology , Pedigree , Polymorphism, Single Nucleotide , Syndrome , Threonine/geneticsABSTRACT
Describimos un caso clínico de epidermolisis ampollosa simple, singular por su inicio en la sexta década y su asociación con síndrome nefrótico y polineuropatíadesmielinizante. Un ensayo clínico de paciente único nos permitió establecer la utilidad del tratamiento con tetraciclina (500 mg/8 h) paradisminuir el número de nuevas ampollas. Este caso ilustra el empleo del ensayo clínico de paciente único en dermatología
We report a case of epidermolysis bullosa simplex, with singular findings such as late appearance (sixth decade), and associated nephrotic syndromeand demyelinating polyneuropathy. A single patient (N-of-1) clinical trial established the usefulness of tetracycline therapy (500 mg/8 h) to diminishthe number of new bullae. This report serves as an example of the use of single patient clinical trials in dermatology
Subject(s)
Humans , Male , Middle Aged , Epidermolysis Bullosa Simplex/drug therapy , Tetracycline/therapeutic use , Nephrotic Syndrome/complications , Psoriasis/complications , Clinical Trials as Topic/methodsABSTRACT
Metallic gold has long been regarded as a relatively safe material when in contact with the skin and mucosal membranes, with only sporadic reports of allergic contact dermatitis or stomatitis. This is probably due to its stability and low tendency to ionization. Lymphomatoid reactions have been described in cutaneous responses to several products. We report a patient who developed bilateral nodules on the earlobes at the sites of piercing earrings. Histologically, these lesions presented a lymphomatoid appearance, with a T-cell diffuse infiltrate. The patch test demonstrated a strong reaction to 1% gold sodium thiosulfate.
Subject(s)
Allergens/adverse effects , Dermatitis, Allergic Contact/diagnosis , Ear, External/pathology , Gold/adverse effects , Lymphomatoid Granulomatosis/diagnosis , Dermatitis, Allergic Contact/etiology , Dermatitis, Allergic Contact/pathology , Diagnosis, Differential , Female , Humans , Lymphomatoid Granulomatosis/chemically induced , Lymphomatoid Granulomatosis/pathology , Middle Aged , Patch TestsABSTRACT
A 50-year-old woman was admitted due to a long-standing history of cutaneous lesions, which were gradually increasing in number and size, located on the trunk and extremities. Histological studies confirmed the initial clinical diagnosis of histiocytomas. Moreover, the patient had numerous smooth erythematous papules on her chin and around her nose, which were diagnosed histologically as angiofibromas. The patient had congenital phocomelia. Analytical and imaging studies revealed the presence of bilateral phocomelia due to absent radii and thrombocytopenia (TAR syndrome). Multiple histiocytomas in a normolipaemic patient bring up several differential diagnoses. Slow progressive evolution without spontaneous resolution and a scattered distribution on the trunk and extremities suggest the diagnosis of progressive nodular histiocytoma. To our knowledge progressive nodular histiocytoma has not been reported previously associated either with TAR syndrome or with angiofibromas. These entities are uncommon, thus their association may not be due to chance.
Subject(s)
Angiofibroma/complications , Ectromelia/complications , Histiocytoma/pathology , Radius/abnormalities , Skin Diseases/pathology , Thrombocytopenia/complications , Angiofibroma/pathology , Female , Histiocytoma/complications , Humans , Middle Aged , Skin Diseases/complications , Skin Neoplasms/complications , Skin Neoplasms/pathology , SyndromeSubject(s)
Killer Cells, Natural , Lymphoma, T-Cell, Cutaneous/diagnosis , Skin Neoplasms/diagnosis , Aged , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Diagnosis, Differential , Humans , Lymphoma, T-Cell, Cutaneous/drug therapy , Lymphoma, T-Cell, Cutaneous/pathology , Male , Skin Neoplasms/drug therapy , Skin Neoplasms/pathologyABSTRACT
Se presenta el caso de un paciente con fotosensibilidad desde los primeros meses de su vida y con máculas pigmentadas en áreas expuestas, algunas de ellas con atipia clínica, que fueron aumentando en número a largo del tiempo. Los estudios de biología molecular detectaron alteración en la capacidad de reparación del ADN, por lo que se diagnosticó de xeroderma pigmentoso. Al poco tiempo de nacer ya se había observado retraso psicomotor, bajo peso y microcefalia sin que se filiara la causa. Progresivamente fue manifestando alteraciones neurológicas que incluían sordera neurosensorial, hiporreflexia y arreflexia, así como movimientos coreoatetósicos. Por todo ello consideramos que el paciente puede incluirse en el síndrome de De Sanctis-Cacchione
We present a male patient with photosensitivity since the earliest months of his life, and pigmented macules in exposed areas, some showing clinical atypia, which increased in number over time. Molecular biology studies detected an alteration in DNA repair ability, so xeroderma pigmentosum was diagnosed. Shortly after birth, low weight, microcephaly and psychomotor retardation had been observed, but the cause was not established. The patient progressively showed neurological disorders that included perceptive deafness, hyporeflexia and areflexia, as well as choreoathetotic movements. Therefore, we felt that the patient's symptoms fit De Sanctis-Cacchione syndrome
