Classic Kaposi's sarcoma treated with topical rapamycin.

Kaposi's sarcoma (KS) is an angioproliferative disorder caused by human herpesvirus 8 (HHV-8). Current research efforts have focused on the study of the relative role of KSHV-encoded genes in Kaposi's sarcomagenesis in order to identify novel mechanism-based therapies for patients suffering from this tumor. Although several viral genes have potential for KS pathogenesis, compelling data point to the KSHV-encoded G protein-coupled receptor (vGPCR) as a leading candidate viral gene for the initiation of KS. Interestingly, the oncogenic potential of vGPCR seems to correlate with its capacity to activate the mammalian target of rapamycin (mTOR) signaling pathway. Rapamycin, the prototypical inhibitor of the mTOR signaling pathway, has recently emerged as an effective treatment for KS when administered orally. In this case report, we present an immunocompetent patient with KS lesions treated with topical rapamycin achieving clinical and histologic healing after 16 weeks of treatment. The topical application of rapamycin could be a novel therapeutic option for the treatment of KS.

Frontal fibrosing alopecia: a multicenter review of 355 patients.

BACKGROUND: To our knowledge, there are no large multicenter studies concerning frontal fibrosing alopecia (FFA) that could give clues about its pathogenesis and best treatment. OBJECTIVE: We sought to describe the epidemiology, comorbidities, clinical presentation, diagnostic findings, and therapeutic choices in a large series of patients with FFA. METHODS: This retrospective multicenter study included patients given the diagnosis of FFA. Clinical severity was classified based on the recession of the frontotemporal hairline. RESULTS: In all, 355 patients (343 women [49 premenopausal] and 12 men) with a mean age of 61 years (range 23-86) were included. Early menopause was detected in 49 patients (14%), whereas 46 (13%) had undergone hysterectomy. Severe FFA was observed in 131 patients (37%). Independent factors associated with severe FFA after multivariate analysis were: eyelash loss, facial papules, and body hair involvement. Eyebrow loss as the initial clinical presentation was associated with mild forms. Antiandrogens such as finasteride and dutasteride were used in 111 patients (31%), with improvement in 52 (47%) and stabilization in 59 (53%). LIMITATIONS: The retrospective design is a limitation. CONCLUSIONS: Eyelash loss, facial papules, and body hair involvement were associated with severe FFA. Antiandrogens were the most useful treatment.

Lesión cutánea ampollosa en la mano de una adolescente / Bullous cutaneous lesion on the hand of an adolescent

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Patchy hair loss on the pubis--a case study.

A female, aged 17 years and with a history of anorexia nervosa, presented with a 3 month history of a large, irregular area of hair loss over the pubis. Physical examination revealed scattered short hairs of varying length, follicular hyperkeratosis and hyperpigmentation throughout the area of alopecia (Figure 1a). A magnified view revealed decreased hair density, broken hairs with different shaft lengths, short vellous hairs and signs of recent haemorrhage (Figure 1b). The remainder of the hairs appeared normal, and her nails did not show any pathological changes. The hair-pull test was negative. Potassium hydroxide (KOH) examination and fungal culture were negative. Biochemical studies, abdominal X-ray and ultrasonography were normal.

Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell.

Phacomatosis pigmentokeratotica (PPK) is a rare epidermal nevus syndrome characterized by the co-occurrence of a sebaceous nevus and a speckled lentiginous nevus. The coexistence of an epidermal and a melanocytic nevus has been explained by two homozygous recessive mutations, according to the twin spot hypothesis, of which PPK has become a putative paradigm in humans. However, the underlying gene mutations remained unknown. Multiple tissues of six patients with PPK were analyzed for the presence of RAS, FGFR3, PIK3CA, and BRAF mutations using SNaPshot assays and Sanger sequencing. We identified a heterozygous HRAS c.37G>C (p.Gly13Arg) mutation in four patients and a heterozygous HRAS c.182A>G (p.Gln61Arg) mutation in two patients. In each case, the mutations were present in both the sebaceous and the melanocytic nevus. In the latter lesion, melanocytes were identified to carry the HRAS mutation. Analysis of various nonlesional tissues showed a wild-type sequence of HRAS, consistent with mosaicism. Our data provide no genetic evidence for the previously proposed twin spot hypothesis. In contrast, PPK is best explained by a postzygotic-activating HRAS mutation in a multipotent progenitor cell that gives rise to both a sebaceous and a melanocytic nevus. Therefore, PPK is a mosaic RASopathy.

Facial angiofibromas treated with topical rapamycin: an excellent choice with fast response.

Tuberous sclerosis (TS) is the second most common genodermatosis in our country and one of its main characteristics is the presence of facial angiofibromas. These benign tumors can be really bothersome for some patients and there is not a gold-standard treatment. Laser therapy has been used with good responses but it is a painful option and recurrence is guaranteed. TS develops as a result of a mutation of one of two genes, TSC1 or TSC2, which encode for hamartin and tuberin, respectively. TSC1 and TSC2 are tumor suppressors that inhibit mTOR, which if mutated results in mTOR activation, leading to an increase in protein translation. This eventually induces formation of hamartomatous tumors in patients with TSC. Oral rapamycin had been reported to be effective for the treatment of various tumors, apparently because of its action of inhibiting the m-TOR complex. Recently it has been suggested that the drug may be effective when applied topically. We report the 6th case of facial AF treated with topical rapamycin, 1 percent, once per day. An excellent response was achieved surprisingly rapidly. We propose this option as a safe and effective therapy.

Lengua negra vellosa / Black hairy tongue

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Nódulos cutáneos. Un souvenir vacacional / Cutaneous nodules. A holiday souvenir

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Amiloidosis intestinal en paciente con infección por VIH / Intestinal amyloidosis in a patient with HIV infection

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Anamnesis en dermatología laboral / No disponible

Resumen: La anamnesis es la principal herramienta diagnóstica en Dermatología Laboral. Puesto que alrededor del 90% de las dermatosis profesionales corresponden a dermatitis de contacto, nuestro interrogatorio se centrará principalmente en conocer las sustancias irritantes o sensibilizantes que se encuentran en el entorno laboral. Esto también incluye las medidas de protección (guantes, mascarilla, botas...) y los jabones o cremas que utilice el paciente en relación con su puesto de trabajo. Es importante además indagar sobre empleos pasados y si presentaba algún problema dermatológico en ellos, ya que podría explicar una sensibilización que no está relacionada con la dermatitis actual. La relación temporal de las lesiones con la actividad profesional, y la mejoría de las mismas cuando no trabaja, es un dato importante para sospechar una causa laboral. Otro dato que apoya un origen laboral es la afectación de varios trabajadores en la misma empresa. La opinión del paciente acerca de cuál es el producto que le produce la dermatitis de contacto nos puede ser de gran ayuda. También debemos conocer cuáles son sus actividades y aficiones extra-profesionales y si presenta rasgos atópicos. Después de una anamnesis bien realizada debemos sospechar el diagnóstico, antes incluso de realizar la exploración física, y utilizar ésta y las pruebas complementarias para confirmarlo

Anamnesis is the main diagnostic tool in Occupational Dermatology. Since about 90% of occupational dermatosis corresponds to contact dermatitis, our questions to the patient are, essentially, directed to know the irritants and allergenic substances present at workplace. This also includes protective measures (gloves, masks, boots...) and soaps or creams used at work. It is important to know the past occupations of the patient and if he/she has had dermatologic problems, because this could explain a sensitization that is not related to the current dermatitis. Temporal relation of the lesions with the professional activity, and improvement when the patient does not work, is an important support of an occupational origin. Several workers affected in the same company also support it. The opinion of the patient about the cause of the contact dermatitis can be very helpful. We must also know his/her hobbies, domestic activities and atopic features. After a well done anamnesis, we must suspect the diagnosis, even before the physical examination. In fact, physical examinations and complementary tests must be used to confirm our suspicion (AU)