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Biomedical subjects

Denise Metry

Publications and source records attributed to Denise Metry.

12 recordsLinked to original sources

Congenital, self-regressing tufted angioma.

BACKGROUND: Tufted angioma (known in Japanese literature as angioblastoma of Nakagawa) is an uncommon, histologically benign, vascular tumor. Lesions typically present during infancy or early childhood and are most commonly reported to persist and/or expand over time. Congenital presentations are rare, as are reports of spontaneous regression. OBSERVATIONS: We present a series of 5 histopathologically confirmed cases of congenital tufted angioma that spontaneously regressed during infancy or early childhood. We also review the literature, focusing on both congenital and early-onset cases in infants. CONCLUSION: We recommend that observation for potential regression be considered for otherwise uncomplicated congenital or early infantile cases of tufted angioma.

Arm↗

Multiple accessory tragi as a clue to the diagnosis of the oculo-auriculo-vertebral (Goldenhar) syndrome.

We present a newborn with multiple features of the oculo-auriculo-vertebral spectrum (OAVS), or Goldenhar's syndrome. Although not reported previously, aplasia cutis congenita might be within the spectrum of anomalies seen in the syndrome. Of particular importance to the dermatologist is the finding of multiple accessory tragi in a linear distribution from the preauricular skin, along the mandible, to the lateral neck, which might be a clue to the diagnosis of OAVS. This syndrome is associated with additional systemic anomalies that can often be found by simple screening techniques.

Adult↗

Update on hemangiomas of infancy.

PURPOSE OF REVIEW: Recent clinical and basic science research has led to advances in the understanding of hemangiomas of infancy. RECENT FINDINGS: New developments include (1) the establishment of a relation between hemangiomas of infancy and placental tissue, (2) the discovery of unique immunohistochemical markers for hemangiomas of infancy, (3) the importance of morphology and location in determining potential risk for underlying complications, and (4) the discovery of becaplermin 1% gel as an effective therapy for refractory ulceration. SUMMARY: The morphology and location of a hemangioma of infancy are critically important factors in determining potential risk for complications. Ongoing research is bringing closer an understanding of the cause of hemangioma, which will provide opportunities for the development of interventional, and ultimately preventative, therapies.

Facial Neoplasms↗

Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis.

BACKGROUND: The potential association of dermal melanocytosis with lysosomal storage disease in infancy is an uncommonly known and poorly understood entity. OBSERVATIONS: We describe 2 infants with extensive dermal melanocytosis in association with GM1 gangliosidosis type 1 and Hurler syndrome, respectively. A literature analysis revealed 37 additional cases. Clinically, dermal melanocytosis associated with lysosomal storage disease is characterized by extensive, blue cutaneous pigmentation with dorsal and ventral distribution, indistinct borders, and persistent and/or "progressive" behavior. GM1 gangliosidosis type 1 and Hurler syndrome are the most common underlying disorders associated with these cutaneous features. CONCLUSIONS: In the appropriate clinical setting, an unusual presentation of dermal melanocytosis in an infant may be a cutaneous sign of an underlying lysosomal storage disease. The pathogenetic mechanisms behind this association remain to be elucidated.

Dermis↗

New and emerging pediatric infections.

Several aspects of emerging pediatric cutaneous infections are of importance to the clinician. New manifestations of parvovirus infection should be recognized promptly, especially because transmission to susceptible populations might lead to serious complications. In the immunocompromised pediatric population, the outcome of cutaneous mold infections can be improved with prompt recognition and initiation of treatment. The incidence of community-acquired MRSA infections in pediatrics is becoming more than a regional concern, and this coincides with the issue of limited antibiotic susceptibility for MRSA as well as other infections. New antibiotics such as linezolid are emerging as potential treatments for drug-resistant pathogens. An older group of antibiotics, the fluoroquinolones, appear to be well tolerated in children and should not be withheld from this population when the benefits of treatment out-weigh the risks.

Acetamides↗

A report of cutaneous tuberculosis in siblings.

Cutaneous tuberculosis is rarely seen in the United States, and we are unaware of any reports of siblings sharing the diagnosis. We report an instance of cutaneous tuberculosis affecting two sisters. The first sibling had skin biopsy specimen findings suggestive of an infectious source, but special stains and cultures were negative. Only with further evaluation using polymerase chain reaction (PCR) was the diagnosis established. The second sibling had positive staining for acid-fast bacilli, though her cultures were also negative. A high level of suspicion for tuberculosis should be maintained in otherwise healthy children with nonspecific, granulomatous disorders of the skin. PCR may be a useful tool for selected cases in which a high level of clinical suspicion exists, but special stains and cultures are negative.

Antitubercular Agents↗

Voriconazole-induced retinoid-like photosensitivity in children.

Voriconazole is a new triazole antifungal agent with activity against a wide range of systemic fungal pathogens, including Aspergillus spp. Photosensitivity is a rarely reported side effect of voriconazole, hypothesized to be a result of retinoid-like effects. We report two children with chronic granulomatous disease to whom voriconazole was administered for chronic invasive aspergillosis. Severe photosensitivity occurred in both patients, one of whom had striking photodamage at the 5-month follow-up.

Adolescent↗

Urticarial lesions in a child with acute lymphoblastic leukemia and eosinophilia.

The hypereosinophilic syndrome (HES) is defined by a longer than 6-month history of peripheral blood hypereosinophilia (greater than 1.5 x 10(9)/L), with signs and symptoms of internal organ involvement, in the absence of an identifiable cause. HES is therefore a diagnosis of exclusion. Patients have been reported who initially met the criteria for HES but subsequently developed a rare hematologic malignancy known as acute lymphoblastic leukemia with eosinophilia (ALL-Eo). We report such a case in a 10-year-old boy who presented to the pediatric dermatology clinic with unusual, urticarial skin lesions. Although skin involvement is often reported in cases of HES and ALL-Eo, such findings are variable and reports in the dermatology literature are few. We emphasize the importance of continuous monitoring for underlying malignancy in children with urticarial skin lesions in the setting of unexplained hypereosinophilia.

Child↗

What syndrome is this?

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Abnormalities, Multiple↗

Vulvar syringomas in a 9-year-old child with review of the literature.

Syringomas are benign tumors of the eccrine sweat gland that are most common to the periorbital location. Less common and under-recognized is their potential involvement of the vulvar skin, where they may cause significant pruritus. In this location, lesions often develop just prior to or during puberty, with symptoms of pruritus sometimes correlating with pregnancy or menstruation. A hormonal influence has thus been postulated. Reported treatments for symptomatic patients include topical corticosteroids, systemic and topical antihistamines, laser and excisional surgery, cryotherapy, and topical atropine, with variable results. We report a 9-year-old girl who had severe pruritus secondary to syringomas of the vaginal labia, and review the literature on this unusual disorder. Awareness of this condition is important in order that patients receive appropriate evaluation and management of their symptoms.

Child↗