José Bernabeu-Wittel

Neonatal Pemphigus Foliaceus

Figure 2. Newborn with flaccid bullae and denuded skin areas on her extremities. A 1-hour-old female patient was referred with skin erosions on her extremities. The patient’s mother was a 33-year-old, otherwise-healthy woman with a 6-year history of pemphigus foliaceus (PF). The patient’s mother had been treated with different immunosuppressive medications, including topical steroids ointments, intermittent oral prednisone, azathioprine, and intermittent intravenous treatment with immunoglobulins. Three months before becoming pregnant, she discontinued all treatments, and a cutaneous relapse of PF occurred at the sixth month of pregnancy, for which she received topical and oral steroids (prednisone 0.5 mg/kg/daily) until delivery. At the time of delivery, the mother had multiple superficial erosions and crusted skin patches on her scalp, face, and trunk (Figure 1), and the infant had flaccid bullae and denuded skin areas on her extremities (Figure 2). Given the clinical presentation and the mother’s pre-existing disease, we diagnosed the infant with neonatal pemphigus foliaceus (NPF). Carefully, we initiated wound care, oral steroids (prednisolone 0.5 mg/kg/daily for a week), and prescribed betamethasone valerate 0.1% ointment. At 4 weeks of age, the clinical examination of her skin was normal. NPF is a transitory autoimmune blistering disease presumed to be caused by the passive transfer of circulating maternal autoantibodies across the placenta. These autoantibodies are direct against a cell-adhesion glycoprotein (desmoglein 1, 160Kd), which is mainly expressed in the granular layer of the epidermis. Most infant born of mothers with PF

Acrodermatitis enerophatica-like skin lesions secondary to isoleucine deficiency

Auteur(s) : Javier J. DOMINGUEZ-CRUZ1 drdominguezcruz@yahoo.es, Maria BUENO-DELGADO2, Jose PEREYRA1, Jose BERNABEU-WITTEL1, Julian CONEJO-MIR1 1 Dermatology Department, Hospitales Universitarios Virgen del Rocio, Avenida Manuel Siurot s/n., 41013 Sevilla, Spain 2 Pediatric Department, Hospitales Universitarios Virgen del Rocio, Avenida Manuel Siurot s/n., 41013 Sevilla, Spain Propionic acidaemia (PA) is an autosomal recessive disorder of branch-chain amino acid and odd-chain fatty acid metabolism [...]

Primary syphilitic chancre on the hand with regional adenopathy.

A 32-year-old man presented with a painless ulcerated lesion on his left hand. About 4 weeks before consultation, he suffered an accidental injury on the left hand while working as a plumber. He admitted a risky sexual relation with a prostitute 2 days later. The lesion began as a rapidly growing nodule. The edge and base of the ulcer had a cartilaginous consistency on palpation. Physical examination also showed an enlarged, painless, and nontender axillary adenopathy (Fig. 1). The patient had no fever, and no other signs or symptoms were seen. Dark-field microscopy demonstrated the presence of spirochetes in lesional exudate. HIV testing was negative even after 6 months. Rapid plasma reagin was positive at a titer of 1/64, and immunoglobulin M fluorescent treponemal antibody-absorption (FTA-ABS) serology test was also positive. Extragenital syphilitic chancres may occur at least in 5% of the patients with syphilis, and typically affect the lips or oral cavity. Other localizations are uncommon and often delay diagnosis.1–5 Awareness of such presentation can facilitate early diagnosis of primary syphilis without resorting to skin biopsy.3 Differential diagnosis for extragenital chancres with lymphadenopathy is challenging, and should include chancroid, herpes simplex, granuloma inguinale, traumatic erosion or ulcer with impetiginization, early lymphogranuloma venereum, cutaneous leishmaniasis, tuberculous chancre (Mycobacterium tuberculosis or bovis), Mycobacterium marinum infection, lymphocutaneous nocardiosis, chancriform pyoderma, and squamous cell carcinoma.2,4 Our patient received a single dose of benzatine penicillin G, 2.4 million units intramuscularly, and the lesion resolved within 2 weeks after treatment and healed without scarring. Six months after treatment, rapid plasma reagin titer decreased to 1/8, Immunoglubulin G FTA-ABS turned positive, and Immunoglobulin M FTA-ABS turned negative. He showed no clinical or serological relapse for a follow-up period of 2 years.

Immunolocalization of substance P and NK-1 receptor in vascular anomalies

The peptide substance P (SP) shows a widespread distribution in both the central and peripheral nervous systems, but it is also ubiquitous in the human body. After binding to the neurokinin-1 (NK-1) receptor, SP regulates tumoral angiogenesis and proliferation. Thus, knowledge of this system is the key for a better understanding and, hence, a better management of many human diseases, including vascular anomalies (VA). This study aims to examine the expression and localization of both SP and the NK-1 receptor in different vascular anomalies using an immunohistochemical technique. Our results demonstrated predominantly nuclear localization of SP in venous malformations and in one haemangioma sample, in contrast with cytoplasmic expression in capillary malformations and rapidly involuting congenital hemangioma (RICH). NK-1 receptor showed a cytoplasmic localization in all VA. In summary, all these findings demonstrate that SP and NK-1 receptor are expressed in VA, with different expression patterns depending on the nature of the anomaly, suggesting that they could play an important role in the pathogenesis of VA.

Uveítis. Un reto diagnóstico multidisciplinar

La uveı́tis es la causa más frecuente de enfermedad inflamatoria intraocular y una importante causa de ceguera y deterioro visual en gran parte del mundo. Se estima que es causa del 10% del déficit visual grave en el mundo occidental. Alrededor del 35% de los pacientes con uveı́tis presenta baja visión o ceguera legal, con la repercusión en la calidad de vida y la productividad laboral que ello supone, al afectar generalmente a pacientes entre los 20 y los 60 años de edad. Es muy importante conocer los diferentes tipos de uveı́tis y su incidencia en cada población para llegar a un correcto diagnóstico del cuadro. De esta forma se conseguirá establecer un tratamiento adecuado que mitigue en lo posible las graves consecuencias que conlleva esta patologı́a. Las uveı́tis han supuesto siempre uno de los mayores desafı́os diagnósticos para el oftalmólogo. Uno de los principales problemas para su diagnóstico y la realización de una correcta clasificación es que bajo este término se engloba un grupo muy heterogéneo de enfermedades. A lo largo del tiempo se han propuesto múltiples clasificaciones, que han sido utilizadas sin que existiera un amplio consenso. Por ello, y con el propósito de establecer una terminologı́a y clasificación homogéneas, el Grupo Internacional para el Estudio de Uveı́tis (International Uveitis Study Group, IUSG) desarrolló en 1987 una serie de recomendaciones y una nomenclatura internacional común para este grupo de enfermedades que fue avalada por el SUN (Standardization of Uveitis Nomenclature) Working Group. Esta clasificación se basó fundamentalmente en el lugar principal donde asienta la inflamación y no en la presencia de complicaciones estructurales. Con el fin de determinar la prevalencia de los distintos tipos de uveı́tis se han realizado múltiples estudios. Aun ası́, la epidemiologı́a y la distribución etiológica de esta enfermedad no han sido

Placa eritematodescamativa con exudación en codo de 1 año de evolución

Varón de 71 años de edad, sin antecedentes de interés, que conultó por una lesión asintomática de 1 año de evolución en el codo zquierdo (fig. 1), que relacionaba con un traumatismo local durante l traslado de unos muebles. La lesión era indolora, no pruriginosa presentó un crecimiento lento y progresivo. Negaba contacto con lantas, tierra o animales. Tampoco había realizado tratamiento sisémico o tópico. A la exploración presentaba en el codo izquierdo na placa eritematodescamativa con costras adheridas y exudación eropurulenta de 5 cm de diámetro. El resto de la exploración física ue rigurosamente normal, sin apreciarse adenopatías epitrocleares i axilares.

Nariz en silla de montar

Varón de 34 años, sin antecedentes de interés, que consultó por fiebre, epixtasis intermitente, tos, hemoptisis y poliartralgias desde hacı́a 14 meses. El mes anterior habı́a presentado una úlcera en la mejilla derecha que curó con corticoides tópicos. Negaba consumo de fármacos y drogas. La exploración fı́sica (figs. 1 y 2) mostró una nariz en silla de montar y una cicatriz deprimida en la mejilla derecha. En la analı́tica se encontró una hemoglobina de 112 g/l, una velocidad de sedimentación globular de 72 mm/h, anticuerpos citoplasmáticos contra neutrófilos positivos y anticuerpos antinucleares negativos. Otros resultados, incluidos creatinina, sedimento urinario y enzima convertidora de angiotensina, fueron normales. Una radiografı́a y una TAC torácicas mostraron varias lesiones nodulares bilaterales. Con estos hallazgos se llevó a cabo una biopsia transbronquial, que confirmó el diagnóstico de granulomatosis de Wegener. El paciente recibió tratamiento con prednisona oral en dosis de 1 mg/kg/dı́a y ciclofosfamida en dosis de 2 mg/kg/dı́a con buena respuesta. Tras un año de seguimiento, permanece bien controlado con azatioprina en dosis de 50 mg/dı́a. Diagnóstico: Granulomatosis de Wegener.

Bacillary angiomatosis with atypical clinical presentation in an immunocompetent patient

Bacillary angiomatosis is a recently described infectious disease that usually affects immunosupressed hosts with a previous history of contact with cats. We report a rare case of bacillary angiomatosis in an immunocompetent 59-year-old woman with no history of previous exposure to cats, and atypical clinical features (fever and subcutaneous nodules with ulceration on the left ankle). Histopathology of the lesion showed extensive ulceration and reactive tumor-like vascular proliferation of the blood vessels with swollen endothelial cells and an inflammatory infiltrate including neutrophils and lymphocytes in the dermis and subcutis. Staining with the Warthin-Starry method demonstrated the presence of clustered bacilli located in the extracellular matrix adjacent to the proliferating endothelial cells. Diagnosis was confirmed with the detection of Bartonella spp. DNA in the affected skin and in bone marrow using polymerase chain reaction.