ABSTRACT
Mixed vascular naevus (MVN) is characterized by the co-occurrence of telangiectatic capillary malformation and naevus anaemicus, which can appear as a pure cutaneous phenotype or be combined with systemic manifestations such as brain malformations, neurological abnormalities and musculoskeletal disorders. Recently, GNA11 and GNAQ somatic mutations have been reported in some patients with isolated and syndromic MVN. We report three children with MVN syndrome with generalized cutaneous manifestations and a number of systemic associations not reported to date, including ophthalmological anomalies, musculoskeletal abnormalities such as Sprengel deformity and posterior vertebral fusion anomalies, and septal heart defects. We also confirm a somatic mutation of GNA11 in both telangiectatic naevus and naevus anaemicus in two of our patients and discuss a possible common pathogenic mechanism underlying the different manifestations of the syndrome. Currently, there are no guidelines for the evaluation of patients with MVN syndrome, but according to the different known aspects of the disease, a complete clinical examination should be made, and complementary laboratory and imaging tests should be considered.
Subject(s)
Capillaries/abnormalities , GTP-Binding Protein alpha Subunits/genetics , Mutation , Nevus/genetics , Telangiectasis/genetics , Vascular Malformations/genetics , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Capillaries/pathology , Child, Preschool , Female , Humans , Infant , Male , Nevus/pathology , Syndrome , Telangiectasis/pathology , Vascular Malformations/pathologyABSTRACT
No disponible
Subject(s)
Humans , Male , Pyoderma Gangrenosum/diagnosis , Carcinoma, Squamous Cell , Prednisone/administration & dosage , Pyoderma Gangrenosum/diagnostic imaging , Pyoderma Gangrenosum/drug therapy , Diagnosis, Differential , Skin Ulcer , Ultrasonography , Tomography, Spiral ComputedABSTRACT
Las ampollas secundarias al tratamiento con PUVA son un efecto secundario de la fotoquimioterapia poco descrito en la literatura científica. Se caracteriza por la aparición espontánea de ampollas asintomáticas localizadas fundamentalmente en los miembros inferiores, que se resuelven sin necesidad de tratamiento. El diagnóstico diferencial debe plantearse con una reacción fototóxica, con la pseudoporfiria y con el penfigoide ampolloso inducido por PUVA. Presentamos 5 casos de ampollas secundarias a la terapia PUVA, con el objetivo de dar a conocer las características clínicas e histológicas de dicha entidad. Su correcto diagnóstico evitará la interrupción del tratamiento, así como la realización de procedimientos diagnósticos y terapéuticos innecesarios
Blíster associated with PUVA treatments are an adverse effect of photochemotherapy that has been reported in the literature. Asymptomatic blisters appear spontaneously mainly on the lower limbs and resolve without treatment. The differential diagnoses to consider include a phototoxic reaction, pseudoporphyria, and PUVA-induced bullous pemphigoid. We describe the clinical and histologic features in 5 cases of blistering secondary to PUVA treatment. If this adverse effect is accurately diagnosed, photochemotherapy need not be interrupted, and unnecessary diagnostic procedures and additional treatments can be avoided
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Aged, 80 and over , PUVA Therapy/adverse effects , Skin Diseases, Vesiculobullous/chemically induced , Blister/etiology , Photochemotherapy/adverse effects , Anti-Infective Agents, Local/therapeutic use , Diagnosis, Differential , Dermatitis, Phototoxic/diagnosis , Fluorescent Antibody Technique, Direct/methodsABSTRACT
No disponible
Subject(s)
Humans , Female , Aged, 80 and over , Acrospiroma/diagnostic imaging , Ultrasonography/methods , Laryngeal Neoplasms/diagnostic imaging , Sweat Gland Neoplasms/diagnostic imaging , Skin/diagnostic imaging , Laryngeal Neoplasms/pathology , Immunohistochemistry , Diagnosis, Differential , Sweat Gland Neoplasms/pathologyABSTRACT
Blisters associated with PUVA treatments are an adverse effect of photochemotherapy that has been reported in the literature. Asymptomatic blisters appear spontaneously mainly on the lower limbs and resolve without treatment. The differential diagnoses to consider include a phototoxic reaction, pseudoporphyria, and PUVA-induced bullous pemphigoid. We describe the clinical and histologic features in 5 cases of blistering secondary to PUVA treatment. If this adverse effect is accurately diagnosed, photochemotherapy need not be interrupted, and unnecessary diagnostic procedures and additional treatments can be avoided.
Subject(s)
Blister/etiology , PUVA Therapy/adverse effects , Adult , Aged , Aged, 80 and over , Blister/diagnosis , Diagnosis, Differential , Female , Humans , Male , Middle Aged , Mycosis Fungoides/drug therapy , Parapsoriasis/drug therapy , Pemphigoid, Bullous/diagnosisABSTRACT
No disponible
Subject(s)
Humans , Male , Adult , Alopecia/complications , Rickets, Hypophosphatemic/diagnosis , Skin Diseases, Papulosquamous/complications , Calcitriol/therapeutic use , Magnesium/therapeutic use , Calcium/therapeutic use , Early Diagnosis , Diagnosis, DifferentialABSTRACT
No disponible
Subject(s)
Humans , Female , Child , Nevus, Pigmented/complications , Eczema/diagnosis , Hypopigmentation/diagnosis , Erythema/diagnosis , Pruritus/etiologyABSTRACT
No disponible
Subject(s)
Humans , Eosinophilia/etiology , Eosinophils , Skin Diseases/diagnosis , Biomarkers/analysis , Myeloproliferative Disorders/diagnosisABSTRACT
No disponible
Subject(s)
Humans , Female , Aged, 80 and over , Xanthomatosis/diagnosis , Breast Neoplasms/complications , Diagnosis, Differential , Postoperative Complications , Chemoradiotherapy/adverse effectsABSTRACT
No disponible
Subject(s)
Humans , Male , Child, Preschool , Granuloma/complications , Granuloma , Erythromycin/therapeutic use , Metronidazole/therapeutic use , Facial Dermatoses/complications , Facial Dermatoses/physiopathologyABSTRACT
No disponible