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Biomedical subjects

G Micali

Publications and source records attributed to G Micali.

At least 19 recordsLinked to original sources
PubMed1992

Two brothers with a variant of hereditary sensory neuropathy.

We report two brothers with the clinical symptoms and neuropathological findings of hereditary sensory and autonomic neuropathy (HSAN) type IV but with normal sweating function and absence of recurrent fever. We propose that our patients may have a lower degree of expression of the genetic defect underlying HSAN type IV or that they represent a separate genetic entity.

Adolescent↗
PubMed1991

Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy.

The epidermal nevus syndrome (ENS) is a sporadic neurocutaneous disorder that consists of epidermal nevi and congenital anomalies involving the brain and other systems. From among over 60 patients with ENS presenting with neurologic manifestations, we identified 17 who had hemimegalencephaly based on pathologic or radiologic studies. Associated brain and neurologic abnormalities included gyral malformations in 12 of 12, mental retardation in 13 of 14, seizures in 16 of 17 (including 9 with infantile spasms), and contralateral hemiparesis in 7 of 12. All had ipsilateral epidermal nevi of the head, and several had ipsilateral facial hemihypertrophy. We concluded that these abnormalities comprise a recognizable neurologic variant of ENS that we believe represents the full expression of primary brain involvement. Several patients also had evidence of acquired brain lesions such as infarcts, atrophy, porencephaly, and calcifications, which are best explained by prior ischemia or hemorrhage. Given repeated observations of blood vessel anomalies in ENS patients, we hypothesize that underlying vascular dysplasia predisposes to these acquired lesions. The same cause may be invoked to explain the wide variety of neurologic symptoms reported in ENS patients without hemimegalencephaly. While the cause of ENS remains unknown, several observations suggest a somatic mutation.

Bone and Bones↗
PubMed1990

Structural hair abnormalities in ectodermal dysplasia.

The hair of patients with three ectodermal dysplasias--ectrodactyly ectodermal dysplasia clefting syndrome (EEC); orofacial-digital syndrome (OFD) type I; and anhidrotic ectodermal dysplasia syndrome (AED)--were studied by scanning electron microscopy. While no pathognomonic abnormalities were noted for each condition, hair shaft structural defects were evident in all patients studied. The EEC clefting syndrome and OFD I shared the most deforming defects, while AED had fewer.

Abnormalities, Multiple↗
PubMed1990

Altered theophylline metabolism in patients with psoriasis.

We observed two patients on theophylline therapy with concomitant severe psoriasis and a two- to threefold greater theophylline clearance than that reported in healthy, nonsmoking adults. There were no factors known to induce theophylline clearance. In both cases, the induction of theophylline metabolism was relatively selective for the 1-methyluric acid pathway. The altered metabolism in these patients appeared to correlate with the clinical severity of the disease. The data suggest the possibility that an observed lack of efficacy for theophylline in psoriasis may be related to pharmacokinetic effects. The concept that altered drug metabolism may occur in the presence of skin disease has important implications for pharmacotherapeutics in dermatology.

Aged↗
PubMed1990

[Costa's acrokeratoelastoidosis. Apropos of a sporadic case].

A sporadic case of acrokeratoelastoidosis is reported. It is very interesting one because it presents some peculiar data we have found such as the beginning at the age of 3 months, the rapid manifestation of the complete clinical aspect within the first year of life, the total involvement of palms and soles. Also so far the literature on the subject does not describe the microcirculatory district's ischaemic attitude, the reduction in elasticity of large and medium arteries.

Adult↗
PubMed1989

A case of the Freire-Maia Odontotrichomelic syndrome: nosology with EEC syndrome.

We report on a patient, born to consanguineous parents, who had a complex malformation syndrome of severe upper limbs anomalies, peculiar face, structural ear anomalies, nasolacrimal duct obstruction, and abnormal hair and nails. We think that the clinical manifestations of the patient are similar to those described by Freire-Maia as the odontotrichomelic syndrome; the differential diagnosis between this syndrome and ectrodactyly, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome is discussed.

Abnormalities, Multiple↗
PubMed1988

A very aggressive form of facial hemangioma.

A 3-month-old girl had a massive, particularly aggressive mixed hemangioma involving the right hemiface, with severe ulcerations of the ear lobe and nasal septum. She also showed cerebral anomalies consisting of cerebellar vermis agenesis and cerebellar right atrophy. Despite treatment with corticosteroids, the child died at age 4 months.

Cerebellum↗
PubMed1987

Familial Ehlers-Danlos syndrome type II: abnormal fibrillogenesis of dermal collagen.

We examined a father and son affected by Ehlers-Danlos syndrome type II. Both patients had micrognathia together with ligament and skin hyperlaxity. The son exhibited complete cleft palate. Ultrastructural studies revealed abnormal collagen fibrils in the dermis of both patients. In the child the most striking alterations consisted of lateral fusion of an enormous number of collagen fibrils giving rise to huge polymorphic collagen masses. In the father's dermis the great majority of collagen fibrils appeared normal; however, lateral fusion of fibrils together with local abnormal collagen aggregation were occasionally seen. In both patients the dermal elastic network was well developed and elastic fibers appeared normal.

Adult↗