Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.

Inherited hypertrichoses are rare syndromes characterized by excessive hair growth that does not result from androgen stimulation, and are often associated with additional congenital abnormalities. In this study, we investigated the genetic defect in a case of autosomal recessive congenital generalized hypertrichosis terminalis (CGHT) (OMIM135400) using whole-exome sequencing. We identified a single base pair substitution in the 5' donor splice site of intron 32 in the ABC lipid transporter gene ABCA5 that leads to aberrant splicing of the transcript and a decrease in protein levels throughout patient hair follicles. The homozygous recessive disruption of ABCA5 leads to reduced lysosome function, which results in an accumulation of autophagosomes, autophagosomal cargos as well as increased endolysosomal cholesterol in CGHT keratinocytes. In an unrelated sporadic case of CGHT, we identified a 1.3 Mb cryptic deletion of chr17q24.2-q24.3 encompassing ABCA5 and found that ABCA5 levels are dramatically reduced throughout patient hair follicles. Collectively, our findings support ABCA5 as a gene underlying the CGHT phenotype and suggest a novel, previously unrecognized role for this gene in regulating hair growth.

Necrotic carpal tunnel syndrome in a child.

Median nerve entrapment at the wrist level causes carpal tunnel syndrome (CTS). Although frequent in adults, CTS is a rare entity in children. Bouvier described an exceptional necrotic variant in 1979 in which skin, nail, and bone lesions are typical. We report the case of a 10-year-old child with necrotic CTS secondary to trauma. To our knowledge, this is the first case reported in a child.

Hypertrichosis lanuginosa congenita treated with diode laser epilation during infancy.

We report the case of a girl with hypertrichosis lanuginosa congenita treated with diode laser depilation since the age of 9 months. The treatment was well tolerated, and neither general nor local anesthesia was needed. A reduction of approximately 80% of facial and body hair was noted, which improved her condition significantly.

Scar-like lesion on dorsal nose (cellular neurothekeoma).

Neurothekeomas are tumors of neural differentiation and of unknown origin that occur in females at the 2nd and 3rd decades of life. They usually affect the face with an unspecific clinical aspect. The histological features include cellular or mixoid differentiation and immunohistochemistry can be positive for protein s-100, vimentin and epithelilal membrane antigen (EMA). This case report presents a 13-year-old female patient with nasal neurothekeoma of cellular variety and strongly positive for vimentin and s-100; and negative for EMA.

Ulcerative cutaneous mycobacteriosis due to Mycobacterium ulcerans: report of two Mexican cases.

We report two patients from Central Mexico, with ulcerated cutaneous lesions containing acid-fast bacilli (AFB) and ultimately diagnosed as Mycobacterium ulcerans disease. The first patient had a long history (11 years) of disease involving multiple lesions of both upper and lower extremities. Histopathological changes included necrosis of the subcutaneous tissue with large numbers of extracellular AFB. Cultures at 32 degrees C were "positive for mycobacteria," but were not further identified. The polymerase chain reaction for M. ulcerans performed on skin bopsies was positive. The lesions improved after treatment with rifampin and isoniazid (INH) for one month, followed by ethambutol and streptomycin. The second case followed trauma to the right hand, which spread over 2 years to the right upper extremity, the back, and both legs, with a loss of digits and metacarpal bones of the right hand. The histopathological findings were similar to the first case, including presence of AFB. PCR for M. ulcerans on extracts of skin biopsies was positive. Rifampin, INH, pyrazinamide, and levofloxacin resulted in marked improvement of the ulcer; ethambutol and streptomycin were later used, also. We report these cases because they are rare (approximately 6 previous cases were reported from Mexico), and both are unusually disseminated. They are significant in alerting the medical community to M. ulcerans infection, which is still active in Mexico, and the treatment used has not been reported previously.

[Focal acral hyperkeratosis associated with pitted keratolysis]. / Hiperqueratosis acral focal asociada a queratolisis punteada.

Focal acral hyperkeratosis is characterized by the same clinical appearance as acrokeratoelastoidosis, but without abnormalities in the elastic fibers. We present the case of a woman with a 10-year case of dermatosis localized on the palms, soles and dorsum of the metacarpophalangeal joints, consisting of multiple polygonal papules and associated hyperhydrosis, clinically compatible with acrokeratoelastoidosis. Her father had a history of the disease. In addition, the patient presented with palmoplantar pitted keratolysis. The histopathological study ruled out elastorrhexis, and the pitted keratolysis was corroborated by the clinical appearance and the presence of coccoid elements in the stratum corneum, evident with a PAS stain. In our opinion, the focal acral hyperkeratosis is not a separate entity from the acrokeratoelastoidosis.

Miasis foruncular de inoculación múltiple por larva de Dermatobia hominis / Furuncular myasis with multiple inoculation sites from the larva of dermatobia hominis

Se presenta un varón de 43 años de edad con miasis foruncular de inoculación múltiple por Dermatobia hominis, secundaria a la picadura por mosquitos en la selva Lacandona. El paciente fue tratado con petrolato tópico en las lesiones durante una hora, seguido de la extracción de las larvas, con curación total. Se revisa la miasis foruncular por D. hominis. (AU)

Estudio de invidividuos con teniosis y su asociación con enfermos con neurocisticercosis / Association of neurocisticercosis patients with taenia carriers

La cisticercosis es la parasitosis más frecuente del sistema nervioso central. El principal factor de riesgo para adquirir neurocisticercosis (NCC) es la presencia en casa de un portador del estadio adulto de la Taenia solium, quien generalmente es asintomático, aunque se pueden identificar los proglótidos en su materia fecal. Con el propósito de identificar a dichos portadores se estudiaron pacientes con NCC que asistían al Servicio de Neurología del Hospital de Especialidades del Centro Médico Nacional Siglo XXI, así como a sus familias. También se incluyeron en el estudio los casos de teniosis del Instituto Nacional de Pediatría, así como los reportados por los Laboratorios Estatales de Salud Pública del Estado de México y de Tlaxcala. Se analizaron los cuadros clínicos de los enfermos con NCC y con teniosis. Las manifestaciones clínicas de NCC encontradas fueron similares a las descritas en la literatura. En pacientes con teniosis, la cefalea, hiperorexia, dolor en hipocondrio derecho y estreñimiento se presentaron con significancia estadística. Fue notoria la dificultad técnica para el diagnóstico de teniosis y para la obtención del parásito una vez administrado el tratamiento, así como la falta de información sobre la enfermedad, por parte de los pacientes con teniosis y sus familias.