Next-Generation Sequencing Identifies a Homozygous Nonsense p.Tyr370* Mutation of the TMC6 Gene in a Mexican Pedigree with Epidermodysplasia Verruciformis.

Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by abnormal susceptibility to infection with b-genotype human papillomavirus (HPV) and a particular propensity to develop cutaneous malignancies. Clinical manifestations include flat, scaly, reddish hypo- and hyperpigmented macules, verruca-like papillomatous lesions, seborrheic keratosis- like lesions, and pink-red pityriasis versicolor-like lesions1.

Mycetoma in children: experience with 15 cases.

BACKGROUND: Mycetoma is a chronic infection caused by aerobic actinomycetes and filamentous fungi. It is an occupational disease frequent in tropical countries and is uncommon in children. METHODS: A retrospective (25 years) report of mycetomas was conducted in children less than 15 years of age. Each of the cases was studied clinically and proven with microbiologic tests: direct examinations (to identify and classify the grains), cultures and identification based on morphology and biochemical tests. The therapeutic experience of the cases was also reviewed. RESULTS: In a 25-year period, a total of 334 mycetomas were seen at our institution, 15 of which (4.5%) were in patients 15 years of age and younger (mean age: 11.2 years, age range: 6-15 years). Twelve cases were males and 3 females. The main clinical location was the foot in 10 of 15 (66.6%). Etiologies included 13 actinomycetomas and 2 eumycetomas. Etiologic agents were Nocardia brasiliensis in 12 cases, Nocardia asteroides in one and Madurella mycetomatis in 2. Eleven of the13 cases of actinomycetomas treated with trimethoprim-sulfamethoxazole plus diaminodiphenylsulfone were cured. The 2 failures were successfully treated with amoxicillin/clavulanate. One of the eumycetomas was cured with itraconazole therapy, whereas the other failed various treatments eventuating in surgical amputation. CONCLUSIONS: Mycetomas are exceptional in children; in our setting, actinomycetomas are more frequent than eumycetomas. The clinical and microbiologic diagnosis is simple. Overall, treatment response is better for actinomycetomas than for eumycetomas.