Biomedical subjects
Publications and source records attributed to Antonio Torrelo.
Netherton syndrome is a rare disease inherited as an autosomal recessive trait due to mutations in the SPINK5 gene. It is characterized by the triad of ichthyosiform dermatosis, alterations of the hair shaft and immunological disorders. We present the case of a 12-year-old girl with the triad of ichthyosis linearis circumflexa, trichorrhexis invaginata and atopic dermatitis, characteristic of Netherton syndrome.
We present a patient with phacomatosis pigmentokeratotica (PPK) who developed several basal cell carcinomas on epidermal nevus lesions in adult life. PPK shows an elevated incidence of development of malignant lesions both on the sebaceous or epidermal nevus component as well as on the nevus spilus one.
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Rhabdomyosarcoma is the most frequent malignant soft tissue tumor in pediatric patients; however, the vulvar location and congenital appearance are exceptional. We present the case of a newborn girl with botryoid rhabdomyosarcoma of the vulva, treated with chemotherapy, conservative surgery and autologous transplant. Botryoid rhabdomyosarcoma is a variation of embryonal rhabdomyosarcoma that typically grows in mucosa-lined hollow organs, from where it can spread to the body surface. The treatment of botryoid rhabdomyosarcoma in the genito-urinary area is based on polychemotherapy, and it can be complemented with radiotherapy and conservative surgery if necessary, thus resulting in an excellent prognosis and few long-term functional sequelae.
Focal epithelial hyperplasia (FEH) is a benign proliferation of the oral mucosa with well defined clinical and histological characteristics. It has been associated with infection of the oral mucosa by types 13 and 32 of the human papillomavirus (HPV), and to a lesser extent, with other types. Its clinical course is variable, although it usually persists for months or years; cases with spontaneous resolution have been described, as have others with prolonged persistence. We present the case of an Ecuadorian boy whose visit was motivated by lesions in the oral mucosa consistent with a diagnosis of FEH, which were confirmed in the histological study, and in which HPV type 13 DNA was identified.
BACKGROUND: Erythema dyschromicum perstans (EDP) or ashy dermatosis is a peculiar, slowly progressive, macular hyperpigmentation, which leaves a permanent discoloration. It is an acquired dermatosis that occurs most frequently in Central and South America. EDP usually appears in adults, but some isolated cases and small series have been reported in prepubertal children. METHODS: A retrospective review of cases of EDP in 10-year-old children or younger, attended in a pediatric hospital between 1990 and 2003. RESULTS: We present 14 cases of EDC in children 10 years and younger. With an additional 25 cases reported so far in the English language literature, a total of 39 children have been described. Unlike adult patients, who are most commonly of Hispanic origin, children with EDP are usually Caucasian. Other important facts in children with EDP are the absence of consistent trigger factors and an eventual improvement or resolution of the lesions in 50% of prepubertal patients. CONCLUSION: We suggest that EDP is a distinctive clinical entity, different from lichen planus and lichen planus pigmentosus, which may be identical to the so-called idiopathic eruptive macular pigmentation.
The prognostic significance of somatic activating codon 816 c-kit mutations in pediatric urticaria pigmentosa has not yet been established in detail. Detection of such mutations in archival paraffin-embedded biopsies is usually hampered by an abundance of surrounding normal cells. Here we describe a method for the selective amplification and specific detection of c-kit mutation Asp816-->Val in complete tissue sections cut from up to 24-year-old paraffin blocks. Peptide nucleic acid-mediated polymerase chain reaction clamping of the wild-type allele was combined with on-line mutation detection using oligonucleotide hybridization probes. In DNA extracted from HMC-1 cells heterozygously carrying the c-kit mutation Asp816-->Val, the one-tube assay allowed specific detection of this mutation in a more than 1000-fold excess of normal background DNA within 1 hour and without the need for additional analytical steps. In a series of 38 cases with pediatric urticaria pigmentosa we detected c-kit codons 815 and 816 mutations in 16 cases. Mutation detection did not correlate with clinical outcome after a mean follow-up of 11.2 years. In conclusion, the procedure described may represent an ideal screening tool for all kinds of clinical applications, using point mutations as markers of, for example, early events in carcinogenesis, circulating metastatic tumor cells, and minimal residual disease.
We describe a case of erythema multiforme in a 2-week-old boy. He had no remarkable antecedents, and a polymerase chain reaction-based technique failed to detect herpes simplex virus DNA in the skin biopsy specimen. To our knowledge, only one previous biopsy-proven case of erythema multiforme during the neonatal period has been reported.
BACKGROUND: Schamberg's purpura (progressive pigmentary dermatosis or pigmented purpuric dermatosis) is uncommonly described in preadolescent children. PATIENTS AND METHODS: A retrospective review of cases of Schamberg's purpura with onset before 10 years of age was undertaken. Clinical and histopathologic data, as well as analytical studies including hemogram, erythrocyte sedimentation rate, serum chemistry, urinalysis, cryoglobulins, and screening for thrombotic and clotting disorders were recorded. RESULTS: A total of 13 patients (3 male and 10 female) from 1 to 9 years of age (median, 5 years) had the typical cutaneous features of Schamberg's purpura. The lower limbs were affected in all patients. Lesions were unilateral in 3 cases. In 4 patients, lesions faded within 1 to 4 years, and in 1 patient lesions improved after 6 years. In 8 patients lesions persisted 1 to 7 years after. Laboratory studies were normal in all patients. CONCLUSION: Schamberg's purpura is a chronic benign form of pigmented purpura which is occasionally seen before puberty.
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A newborn girl had typical "blueberry muffin" skin lesions, which showed histopathologic features of myelomonocytic leukemia cutis. We could not demonstrate leukemic infiltration of bone marrow in four aspirates. Her course was complicated with primary pulmonary hypertension, which led to death at 7 months of age. We emphasize the persistence of skin lesions in the absence of bone marrow infiltration by leukemia throughout the course of the disease.
Nevus psiloliparus is a distinct type of mesodermal nevus of the scalp characterized by absence or paucity of hair, and presence of an excessive amount of fatty tissue. It is considered a hallmark of encephalocraniocutaneous lipomatosis, a rare disorder comprising a variety of cutaneous, ophthalmologic, and neurologic defects. We report two infants with encephalocraniocutaneous lipomatosis with nevus psiloliparus on the scalp in close association with aplasia cutis congenita. This unusual association may be considered a further example of didymosis, for which we propose the term, didymosis aplasticopsilolipara.
Aplasia cutis of the scalp is often a sporadic condition, but familial occurrences with an autosomal dominant inheritance have been documented. Aplasia cutis of the scalp may be seen in two main clinical variants: oval-shaped membranous aplasia cutis and irregular, larger defects. We report six families in whom more than one member has aplasia cutis of the scalp, all of them with large irregular defects located over the vertex or anterior to the vertex along the sagittal suture. We review previous reports of this entity with clinical pictures and note that in most instances, the defects are of the nonmembranous variant.
Treatment of severe nodular infantile acne with oral isotretinoin has been effective and well tolerated in a small number of patients. We present another instance of successful treatment of severe acne with oral isotretinoin in a young infant and suggest that isotretinoin should be the treatment of choice for severe nodular acne in children and infants, especially if topical treatments or oral antibiotics have failed.
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Pyoderma gangrenosum is rare in children and very rare in infants less than 1 year of age. We report Pyoderma gangrenosum in a 6-month-old girl without any associated disorders, which was well controlled with oral prednisone. This entity in infants usually presents with multiple lesions, mainly located on the face, buttocks, thighs, and extremities, which in some instances are associated with pathergy. Pyoderma gangrenosum in infants has a good response to therapy, and healing is usually achieved.
A number of dermatoses have been reported to appear in close temporal or spatial relationship to the intramuscular injection of vaccines. We describe two young children who had morphea consistent with the deep morphea type (morphea profunda) that appeared at the site of a previous vaccination. Trauma has been implicated as an important trigger of morphea, both in children and in adults. Furthermore, vaccines might induce an immune response, which could lead to morphea in predisposed individuals.
A girl with multiple lesions of nevoid hypertrichosis and linear hypopigmentation following Blaschko's lines is presented. She had no extracutaneous anomalies. We hypothesize that this unusual coexistence of skin lesions may represent a further example of "twin spotting".