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Anthony J Mancini

Publications and source records attributed to Anthony J Mancini.

24 records · Page 2Linked to original sources
PubMed2002

Three members of a family with pili torti and sensorineural hearing loss: the Bjornstad syndrome.

Thirty cases of the Bjornstad syndrome (sensorineural deafness and pili torti) have been reported between 1965, when it was first described, and 1999. Both autosomal dominant and recessive inheritance patterns appear in the literature. We describe a family in which 3 members have the combination of pili torti and varying degrees of hearing loss inherited in an apparently autosomal dominant fashion. Hairs from the father and son of this family showed the classic features of pili torti under scanning electron microscopy.

Audiometry↗
PubMed2002

Cutaneous manifestations of hyper-IgE syndrome in infants and children.

We describe 8 children with hyper-IgE syndrome who had papulopustular eruption on the face and scalp in the first year of life. Seven of the 8 patients had persistent peripheral eosinophilia and 3 had leukocytosis noted before diagnosis. Skin biopsy specimens in 6 patients revealed spongiosis and perivascular dermatitis and/or folliculitis with a predominance of eosinophils. Two patients had bone fractures and osteopenia. Recurrent pneumonia occurred in 6 children and pneumatoceles in 5. The diagnosis of hyper-IgE syndrome was made an average of 18 months after the onset of the initial papulopustular eruption. These findings may lead to earlier recognition of the disease and institution of appropriate treatment.

Anti-Bacterial Agents↗
PubMed2002

Is noma neonatorum a presentation of ecthyma gangrenosum in the newborn?

Noma neonatorum was suggested as a distinct entity characterized by a gangrenous process of the nose, oral cavity, eyelids and perineum that was almost universally fatal in premature infants with Pseudomonas sepsis. We report the first case of noma neonatorum in a 26-week-gestation twin born in the United States. Our case is consistent with previous descriptions of noma neonatorum; however, we question the distinction between noma neonatorum and a neonatal presentation of ecthyma gangrenosum.

Diagnosis, Differential↗
PubMedDate not supplied

A child with both Langerhans and non-Langerhans cell histiocytosis.

The histiocytic syndromes consist of a group of disorders that share in common the proliferation of cells of the monocytic/macrophage lineage. It has been conventional to divide the histiocytoses into two separate groups: Langerhans cell histiocytosis (LCH) and non-LCH. We present a 2-year-old Hispanic boy who was referred to the dermatology clinic for evaluation of an asymptomatic cutaneous eruption of the head and upper trunk. In addition, he had a 3-week history of pain in his right leg and difficulty in walking. The patient's physical examination was normal, excluding the skin findings. On plain radiography, multiple lytic lesions in the skull, lumbar spine, and right tibia were seen. Histopathologic examination of a skin biopsy specimen revealed a predominantly histiocytic infiltrate in the dermis which was negative for S-100 and CD1a stains. A tibial biopsy specimen showed a monomorphous infiltrate of histiocytes that were S-100 and CD1a positive. This patient's concomitant findings of both LCH and non-LCH histiocytoses further support a potential overlap within the histiocytic syndromes, as has been suggested by others.

Anti-Inflammatory Agents↗
PubMedDate not supplied

Hemifacial infantile hemangioma with intracranial extension: a rare entity.

Intracranial hemangiomas are uncommon, especially in the absence of diffuse hemangiomatosis or the syndrome consisting of posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities, sternal clefting, and/or supra-umbilical raphe (PHACES). We saw an 8-month-old ex-premature girl with a large left-sided ocular and facial hemangioma that had been growing since early infancy. Examination revealed a 7 x 13 cm violaceous tumor involving the left periocular region and face. Ophthalmologic examination revealed deprivation amblyopia, anisometropia with myopia and astigmatism. Magnetic resonance imaging demonstrated a vascular tumor mass involving the scalp, face, and calvarium with extension into the orbit, infratemporal fossa, nasopharynx, lateral medullary cistern, internal auditory canal, and fourth ventricle. Marked enhancement was seen with contrast, and no posterior fossa malformations were noted. She was treated with prednisolone, which was tapered over 12 months. Follow-up magnetic resonance imaging examination at 25 months showed a marked decrease in the size of all lesions, with residual hemangioma in the periorbital soft tissues and small foci in the orbit and intracranial sites. The brain and ventricular system were normal. Intracranial hemangioma may occur in the setting of a large facial hemangioma (especially segmental) in the absence of the PHACES syndrome or diffuse hemangiomatosis. Radiological imaging should be considered to assess for intracranial hemangioma as well as posterior fossa or arterial anomalies.

Amblyopia↗