Biomedical subjects
Publications and source records attributed to R Ruiz-Maldonado.
A 13-year-old girl had a six-year history of infiltrated erythematous plaques on the face, alopecia of the eyebrows, diffuse alopecia of the scalp, and absence of body hair. Histologically, the lesions on the face and body corresponded to trichoepitheliomas. The lesions on the face clinically simulated lepromatous leprosy. This case probably represents an entity not previously described.
Eighty pediatric patients with giant pigmented nevi more than 20 cm in their greatest diameter are reported. The incidence was 1 in 4150 general pediatric outpatients. The mode of inheritance of giant pigmented nevi is probably multifactorial; four second-degree relatives of our patients also had large nevi, and there was a 2:1 female predominance. Satellite nevi were present in 74% and nevi in mucous membranes in 31% of the patients. Eighty-six percent of nevi were pigmented and hairy. Benign nodules were observed in 19% of the patients and plexiform overgrowths in 6%. Nevi extensively involving the extremities resulted in reduced growth of the affected limb. Electroencephalograms showed abnormalities in 20% of the patients with giant pigmented nevi involving the head and upper portion of the trunk. Malignant transformation appeared in four patients and was fatal in three of them. Management consisted of observation only in 49%, surgery in 27.5%, chemical peel in 21%, and dermabrasion in 2.5% of the patients. The mean follow-up was 4.7 years.
We conducted a 20-year prospective review of 41 pediatric patients with a diagnosis of hypomelanosis of Ito. No evidence pointed to hereditary transmission of the disease. Associated extracutaneous pathology was mainly of the nervous and musculoskeletal systems. Three of 19 patients had chromosomal anomalies. Hypomelanosis of Ito is a clinically well-characterized syndrome in which chromosomal instability may be a component. Criteria for its presumptive and definitive diagnosis are proposed.
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Twenty-six children with scabies and 32 contacts were treated with 10% sulfur in cold cream. A 100% clinical cure rate was observed, although 56.8% of patients experienced some kind of mild, transient cutaneous reaction. An additional 25 children with scabies and 28 contacts were treated with 10% sulfur and 1% salicylic acid in pork fat. Of these, 88% were clinically cured and 73.5% had some cutaneous adverse effects. In both groups, most adverse effects were related to skin dryness or postscabetic reaction. The cold cream base was more acceptable to patients than the pork fat base. However, the pork fat base was significantly cheaper and easier to obtain than the cold cream base, and 238 times less expensive than the cheapest commercial scabicidal medication available in the United States.
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Giant membrane-bound cytoplasmic granules were found in the epidermal Langerhans cells of a patient with the Chediak-Higashi syndrome. These cells also contained normal-appearing Birbeck granules. The giant granules had a granular or sometimes globular internal structure; they are believed to derive from fusion of lysosomes or some portion of Birbeck granules. It is unclear whether this morphologic change in Langerhans cell interferes with their antigen-presenting function; it may be, in part, responsible for the frequent infections seen in patients with Chediak-Higashi syndrome that are otherwise more clearly related to the abnormalities in neutrophils and lymphocytes. The Langerhans cell is another cellular type in Chediak-Higashi syndrome in which giant cytoplasmic granules are found.
The presence of Pityrosporum ovale was investigated in four groups of infants age 1 to 24 months, 15 with infantile seborrheic dermatitis, 15 with infantile atopic dermatitis, 15 with other infantile dermatoses, and 15 healthy infants. Samples were taken from the scalp, face, presternal area, and inguinal area. Pityrosporum ovale was detected by smears and/or cultures in 73% of infants with seborrheic dermatitis, 33% with atopic dermatitis, 33% with other dermatoses, and 53% of healthy infants. The percentages of positive smears and/or cultures from four body sites in each patient group were 42% for seborrheic dermatitis, 20% for atopic dermatitis, 20% for other infantile dermatoses, and 23% for healthy infants. The majority of infants with positive cultures or positive direct examination for P. ovale were between 1 and 8 months of age. The organism was isolated in 28% of samples taken from the scalp, 32% from the face, 30% from the presternal area, and 15% from the inguinal area. Patients with infantile seborrheic dermatitis were treated with 2% topical ketoconazole cream for two weeks. Eleven of these children were clinically cleared and 13 became mycologically negative. Pityrosporum ovale was significantly more frequent in infants with seborrheic dermatitis than in those with atopic dermatitis, in other infantile dermatoses, or in healthy infants, both in the total number of infants with positive smears and/or cultures and in the number of positive samples per body area (P less than 0.05).
60 children aged from one month to two years were studied: 15 presenting with childhood seborrheic dermatitis, 15 with childhood atopic dermatitis, 15 with various childhood dermatoses and 15 healthy asymptomatic children. Samples of cutaneous scales from the scalp, face, sternal area and inguinal area were taken for the purpose of determining the presence of ovale by direct microscopy examination and culture. P. ovale was found in 73% of the infants presenting with seborrheic dermatitis, in 33% of those with atopic dermatitis, in 33% of those with other dermatoses and in 53% of the healthy infants. The proportion of infants in whom all four samples were found to be positive to P. ovale was as follows: 42% for seborrheic dermatitis, 20% for atopic dermatitis, 20% for other childhood dermatoses and 23% in the healthy infants. The majority of infants with both positive microscopy and culture for P. ovale were aged one to eight months. The group presenting with seborrheic dermatitis was treated with 2% ketoconazole cream or two weeks. Clinical cure was achieved in 11; mycological examination was negative in 13. P. ovale was significantly more frequent in infants with seborrheic dermatitis than in infants belonging to the other three groups. The role of P. ovale in the pathophysiology of seborrheic dermatitis is discussed.
The incidence of primary and metastatic cutaneous malignant solid tumors was investigated in a pediatric dermatology department. Among 25,000 first time patients seen between 1971 and 1985, 19 had cutaneous malignant solid tumors with an annual incidence of 0.7 for every 1,000 pediatric dermatology patients. Nine cases had primary cutaneous tumors and 10 cases metastatic tumors. The majority of patients were infants (zero to two years). The tumors found were rhabdomyosarcoma, six cases; basal-cell carcinoma, four cases; neuroblastoma, three cases; malignant melanoma, two cases, squamous-cell carcinoma, dermatofibrosarcoma, atypical fibroxanthoma and myxopapillary ependymoma, one case of each. Predisposing factors for the developing of malignancy were present in 42% of patients.
The clinical, histopathologic, and mycologic aspects of a case of subcutaneous phycomycosis caused by Basidiobolus haptosporus in a 3-year-old boy are reported. This is the first documented case from Central and North America. Oral potassium iodide and trimethoprim-sulfamethoxazole gave excellent therapeutic results.
We cared for 124 pediatric patients with a histologic diagnosis of Langerhans' cell histiocytosis (histiocytosis X) over a period of 14 years. Clinical, laboratory, and radiographic findings were analyzed. The most frequent manifestations were bone lesions, lymph node involvement, and skin infiltration. Liver disease was noted in 50% of patients and lung disease in 23%; hematologic changes were also frequent. Dysfunction and involvement of these three organ systems, plus age of onset, distinguished the group of patients with the highest mortality. All patients with generalized disease or organ dysfunction were treated with systemic chemotherapy. The actuarial survival curve at 10 years was 63%.
We examined four patients who had a combination of extensive nevus flammeus, significant oculocutaneous pigmentation, and severe neurologic alterations. All cases were sporadic. The vascular and neurologic alterations were clinically similar to those observed in the Sturge-Weber syndrome. The capillary vessels are ultrastructurally different in phacomatosis pigmentovascularis from those of a nevus flammeus in the Sturge-Weber syndrome; however, melanocytes of normal aspect were present in the middle and deep dermis. The characteristic oculocutaneous pigmentation probably represented a noncoincidental association. The term phacomatosis pigmentovascularis seems appropriate for this apparently new neurocutaneous syndrome.
During the last 10 years we treated 39 children with severe keratinization disorders with the aromatic retinoid etretinate. Six of these children were followed-up for 8-9 years. Mucocutaneous serum enzymatic and lipid side effects of etretinate were mild, transient and well tolerated. Osseous side effects were present after 4-6 years in all our 6 patients on prolonged retinoid therapy. Asymptomatic osseous neoformation and osseous reabsorption in the absence of calcium, phosphate, and alkaline phosphatase serum alterations have been observed. The growth and development curves and the sexual development of our patients (with exception of a patient with Rud's syndrome) have been normal. Osteoporosis and slender diaphysis were often present at initiation of therapy. On the basis of our findings and recent reports of the literature we suggest restricting retinoid therapy of keratinizing disorders in children to conditions severe enough to be physically, psychologically or socially incapacitating. In an attempt to reduce the risk of chronic toxicity and possibly to allow regression of initial bone alterations, intermittent therapy and combination therapy are recommended.
Sixty patients with acute disseminated epidermal necrosis (ADEN) were hospitalized and carefully studied. They included thirty-nine patients with drug-associated Stevens-Johnson syndrome, five patients with drug-associated Lyell's syndrome, and sixteen patients with transitional ADEN. On the basis of growing evidence of an association between erythema multiforme major and drugs and between Lyell's syndrome and drugs, and because of the existence of transitional cases, a unitary hypothesis for this group of cases is proposed. Considering the lack of precise definitions and the confusing current terminology, we define and propose the following terms: ADEN type 1 for drug-associated Stevens-Johnson syndrome, ADEN type 2 for drug-associated transitional cases, and ADEN type 3 for drug-associated toxic epidermal necrolysis, or Lyell's syndrome. The most frequent underlying diseases in our patients were seizures, and the most frequently suspected cause of ADEN was the use of anticonvulsants. All our patients were treated with supportive therapy; none received corticosteroids. The general mortality rate was 15%. The recognition of ADEN type 2 (transitional) has important prognostic and therapeutic implications.
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Progressive cardiomyopathic lentiginosis (PCL) is a syndrome with progressive multisystem abnormalities. Lentigines, the cutaneous hallmark, are usually present from early age and are of utmost diagnostic value. Six children with PCL are reported. The most constant diagnostic features in this age group were multiple cutaneous lentigines, structural cardiac anomalies, and electrocardiographic alterations. Less constant findings were neurosensory deafness, short stature, and osseous, ocular, and genitourinary abnormalities.