Search

We report a 10-month-old boy with inflammatory and necrotic gingival lesions, fever, irritability, and pseudoparalysis of the legs. Laboratory examinations revealed moderate anemia and skeletal X-rays showed osteopenia, scorbutic rosary at the costochondral junctions, and "corner sign" on the proximal metaphyses of the femora. The boy had been fed only with diluted cow's milk. He had never taken solid food, vitamin C, or iron complement. Seventy-two hours after starting oral vitamin C supplementation, there was significant improvement in the patient's gingival lesions and general health. The clinical presentation and laboratory and imaging findings, together with the dramatic response to ascorbic acid intake, allowed us to confirm the diagnosis of infantile scurvy. Scurvy, a dietary disease due to the deficient intake of vitamin C, is uncommon in the pediatric population. In an infant who has never received vitamin C, the combination of gingival lesions, pseudoparalysis, and irritability strongly suggests a diagnosis of scurvy. The clinical picture, together with the laboratory data, radiological studies, and therapeutic response to vitamin C administration, confirmed the diagnosis.

Pseudoxanthoma elasticum (PXE) is caused by mutations in the ABCC6 gene. Historically, PXE has been suggested to be inherited either in an autosomal dominant or autosomal recessive manner. To determine the exact mode of inheritance of PXE and to address the question of phenotypic expression in mutation carriers, we identified seven pedigrees with affected individuals in two different generations and sequenced the entire coding region of ABCC6 in affected individuals, presumed carriers with a limited phenotype and unaffected family members. Two allelic mutations were identified in each individual with unambiguous diagnosis of PXE, as well as in those with only minimal clinical signs suggestive of PXE but with positive skin biopsy. Missense mutations were frequently detected in the latter cases. In conclusion, PXE is inherited in an autosomal recessive manner and presence of disease in two generations is due to pseudodominance.

We report an 8-year-old boy who developed dystrophic calcinosis cutis that occurred following trauma. Multiple abrasions were observed in the inguinal folds after a soccer game. Subsequently, multiple papules with soft centers and white particles appeared in the same area. A biopsy specimen showed calcinosis cutis with transepidermal elimination of calcium. The causes of the underlying tissue damage associated with dystrophic calcinosis are discussed.

An 11-year-old girl had multiple, disseminated, rather small café-au-lait macules and hypochromic spots involving the neck, the trunk and the legs. In part, the two types of macules showed a spatial proximity, suggesting didymosis (twin spotting). The term cutis tricolor has been proposed to describe congenital paired hyperchromic and hypochromic macules on a background of intermediate skin. Because the spots present in this case were much smaller than those described in previous cases of cutis tricolor, we here propose the distinguishing term 'cutis tricolor parvimaculata'. The underlying gene locus may be a hot spot for postzygotic recombinations, giving rise to multiple twin spots. Moreover, the girl had developed seizures from the age of 10 years, and a large oligodendroglioma involving the left frontal lobe was found. A causal relationship between the cutaneous phenotype and the cerebral tumor is unproven but likely. The skin lesions were reminiscent of a disorder described by Westerhof et al. in 1978 under the term 'hereditary congenital hypopigmented and hyperpigmented macules'. So far, however, it is not clear whether cutis tricolor parvimaculata is identical with or different from this disorder., ((c) 2005 S. Karger AG, Basel)

Objective: To determine the significance of the dermatologic and systemic abnormalities found in 11 patients with Fabry disease (FD) which is an X-linked lysosomal storage disorder caused by the partial or complete deficiency of the alpha-galactosidase A enzyme. This defect leads to the accumulation of uncleaved glycosphingolipids throughout vascular endothelium and visceral tissues., Design: Case series., Setting: Pediatric Dermatology Division, Ramos Mejia Hospital (primary care center) and Laboratory of Neurochemistry (referral center for metabolic diseases)., Patients: Eleven patients with FD were studied: 6 hemizygous men (mean age, 23.0 years) and 5 heterozygous women (mean age, 49.4 years)., Results: Mucocutaneous angiokeratomas (AKs) were found in 5 (83%) of 6 hemizygotes and 4 (80%) of 5 heterozygotes. The AKs appeared at an average age of 13 years, affecting predominantly genitalia, back, elbows, and other frequently traumatized areas. All the hemizygotes and none of the heterozygotes suffered from hypohidrosis. Angiokeratomas on the trunk and oral mucosa without sweat abnormalities were detected in 80% of heterozygous women. All hemizygotic men presented with acral pain in childhood., Conclusion: We emphasize the value of early recognition of AKs and hypohidrosis as diagnostic clues to FD, a severe and progressive disorder.

Palmoplantar eccrine hidradenitis is a self-limited disease characterized by painful erythematous papules and nodules of abrupt onset on the soles, and less frequently on the palms, of young individuals in good health. We describe seven children, four girls and three boys, between 4 and 12 years of age, with characteristic cutaneous and histopathologic findings of palmoplantar eccrine hidradenitis. All patients had complete resolution of their lesions within 2-4 weeks without treatment, however, one child experienced recurrences. All skin biopsy specimens showed a deep dermal mixed infiltrate with abundant neutrophils surrounding eccrine sweat glands, the histologic hallmark of the disease. Palmoplantar eccrine hidradenitis is a distinct clinical entity in which physical activity, excessive sweating, and prolonged wetness are possible triggering factors. The regression of the lesions is usually rapid, with complete clearance after 1 month, although there may be recurrent episodes.

Kawasaki disease (KD) is a multisystem disorder with varying clinical expression. We describe an instance of facial nerve paralysis in a patient with KD. A 5-month-old boy developed fever, irritability, and diarrhea, treated 8 days later with cefaclor and ibuprofen. Three days later a confluent, erythematous and papular rash appeared, his lips were reddened and swollen, and his white blood count and platelet count were 20,900/mm(3) and 558,000/mm(3), respectively. He was admitted to the hospital with a diagnosis of KD, and an echocardiogram showed a right coronary aneurysm. The patient then developed an acute, right-sided, facial nerve peripheral paralysis that resolved over the next 6 weeks. He was treated with intravenous immune globulin (IVIG) 2 g/kg and aspirin 100 mg/kg/day with improvement of signs and symptoms. This report documents facial nerve paralysis as an uncommon complication of KD and points out that it may be a marker of increased risk of cardiovascular disease in this disorder.

We report the occurrence of calcinosis cutis in a 3-year-old girl after liver transplantation. The cutaneous lesions consisted of 5 mm white papules on an erythematous base in linear and rosette configurations that developed in the abdominal and lumbar areas 10 days after transplantation. The patient had received calcium chloride solution intravenously during surgery. We excluded other causes of ectopic calcification such as hyperparathyroidism, renal failure, and extravasation of calcium solution. We discuss the etiology of calcinosis cutis after liver transplantation. This sequence of events has not been previously described in pediatric patients.

We describe two children with acute onset and spontaneous resolution of angioma-like papules during a viral illness. The biopsy specimens from both patients showed a unique histologic appearance consisting of dilated dermal blood vessels with plump, hobnail-shaped endothelial cells. On the basis of the natural history and the histopathologic features we suggest the diagnosis of eruptive pseudoangiomatosis.

Pseudo-Kaposi sarcoma with vascular malformation (Stewart-Bluefarb syndrome) is an uncommon and important entity characterized by congenital arteriovenous malformation and skin lesions that may resemble Kaposi sarcoma. This is usually seen in the lower limb of young people. We report a case of this syndrome in a 17-year-old boy who had skin lesions on the right leg and foot.

Background: Congenital self-healing Langerhans cell histiocytosis (CSHLCH) is a rare condition, initially seen at birth or in the neonatal period, with generalized papules, vesicles, or nodules. Affected infants are otherwise well and the skin lesions tend to involute spontaneously within weeks to months., Methods: Twelve patients with CSHLCH were seen from 1989 to 1998., Results: Eight patients were girls and four were boys and all presented with lesions at birth which disappeared 1-3 months later. The lesions consisted of numerous brownish-red papules, papulovesicles, crusts, and nodules distributed on the face, limbs, palms, and soles. Two patients had oral mucosal lesions, and one had ulcerated lesions that evolved leaving hypochromic macules. Light microscopy showed a histiocytic infiltrate in the papillary dermis with epidermotrophism. Two cases were studied by electron microscopy: the Langerhans cells showed Birbeck granules and laminated corpus in their cytoplasm. Immunomarking with S100 protein was performed in all 12 patients and was positive. CD1 was also tested in four cases and was positive., Conclusions: Because CSHLCH is a rare condition, we emphasize that, although it is usually a benign, self-limited entity, careful evaluation for systemic disease must be performed and long-term follow-up must be carried out to detect evidence of relapse or progression of the disease; this is essential when treating these patients.

Eosinophilic pustular folliculitis (EPF) is a cutaneous inflammatory follicular disorder of unknown etiology. The diagnosis is made on the basis of clinical and histopathologic features. We describe two patients who had recurrent episodes of pruritic follicular papular and pustular lesions on the face, extremities, and trunk. The eruptions lasted for 1 month with intermittent remissions. Laboratory tests disclosed no infectious or parasitic etiology in patient 2. In patient 1 we isolated methicillin-resistant Staphylococcus aureus in a blood culture. He had sepsis with lung and liver involvement. EPF is a self-limited dermatosis. On occasion, skin lesions may become superinfected, resulting in localized pyoderma or rarely systemic infection (sepsis). Histologically both of our patients showed a moderate mixed inflammatory infiltrate with numerous eosinophils centered around hair follicles. Their lesions responded well to topical corticosteroids.

We present nine infants (3 to 10 months of age) with numerous small, papular, papular-lichenoid, and papulo-pustular lesions predominantly on the upper and lower limbs associated with local (axillary) lymphadenopathy which appeared after BCG vaccination. Histopathology of the lesions showed small tuberculoid granulomas mainly in the papillary dermis. The presence of BCG bacillus was demonstrated in five out of seven samples from the lymph nodes after culture and in one skin biopsy specimen. All cases, whether treated or not, evolved to complete resolution of the skin lesions. We believe that this peculiar association results from hematogenous spread of the bacillus, which regresses after an adequate immune system reaction.