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PubMed2005

Necrolytic acral erythema: a patient from the United States successfully treated with oral zinc.

BACKGROUND: Recently, necrolytic acral erythema (NAE) has been described as a cutaneous marker for hepatitis C virus (HCV) infection. Only 2 cases have been reported in the United States. Successful remission has been induced only with interferon therapy with or without ribavirin. OBSERVATIONS: We describe a 46-year-old, HCV-positive African American woman with well-defined, dusky, erythematous plaques on the dorsa of the feet, Achilles tendons, legs, knees, and elbows. Histologic examination revealed confluent upper epidermal necrosis, acanthosis, papillomatosis, and superficial and deep perivascular inflammation. She was diagnosed as having NAE. We induced successful disease remission with oral zinc administration. This is the third NAE case reported in the United States and the first report of disease remission with oral zinc therapy alone. CONCLUSIONS: Since its initial description in Egypt, more cases of NAE are being reported in the United States. Increased awareness of this entity is crucial. Oral zinc might represent a less toxic alternative therapeutic option for patients with NAE.

Acrodermatitis↗
PubMed1998

Hypertrophic scarring is associated with epidermal abnormalities: an immunohistochemical study.

The role of epidermal keratinocytes in the early phases of normal unimpaired wound healing has been studied extensively. However, little is known about the cell biological processes in the epidermis and the basal membrane zone during the later phases of dermal matrix formation and remodelling of the scar tissue. This study investigated epidermal growth and differentiation and maturation of the basal membrane zone. Biopsies were taken from (clinically) hypertrophic and non-hypertrophic scars at 3 and 12 months after a breast-reduction operation. Tissues were analysed using immunohistochemical techniques. The data showed that epidermal abnormalities with respect to differentiation persist up to 3 months, as witnessed by the expression of cytokeratin 16. Remarkably, hypertrophic scars that remained hypertrophic throughout the period of analysis (up to 12 months) showed significantly more cytokeratin 16 expression at 3 months, when compared either with normal scars or with hypertrophic scars that became normal after 12 months. Staining for Ki-67 antigen, a marker for cell proliferation, revealed an increase in basal keratinocyte proliferation rate in 3-month-old hypertrophic scars compared with non-hypertrophic scars. After 12 months, this difference had disappeared completely and the number of cycling basal cells had returned to normal values. Three-month-old hypertrophic scars showed more acanthosis than non-hypertrophic scars of the same age, irrespective of whether they remained hypertrophic or became normal scars. After 12 months, this difference was no longer present. Staining for various heparan sulphate proteoglycan epitopes revealed that restoration of the basal membrane was incomplete at 3 months, but was complete at 12 months with respect to this component. No differences in the expression of several components of the basal membrane zone (heparan sulphate proteoglycan, laminin, tenascin) were noted between hypertrophic and non-hypertrophic scars. These data show that in the early phase of hypertrophic scarring, epidermal abnormalities are found compared with normal wound healing. In addition, early (3 months) epidermal abnormalities are associated with the clinical outcome at 12 months. These findings raise the possibility that the epidermal compartment is involved in the pathogenic process.

Adolescent↗
PubMed1996

Köbberling-Dunnigan syndrome: a rare cause of generalized muscular hypertrophy.

A 36-year-old woman presented with muscle hypertrophy (particularly of the calves) since puberty, occasional muscle cramps, a musculine habitus, and a loss of subcutaneous fat on limbs and trunk sparing her face, neck, and vulva. Multiple lipomas were found on her trunk, and acanthosis nigricans on her neck. Laboratory testing revealed hyperlipidemia and pathological glucose tolerance with hyperinsulinemia. Physical and laboratory findings are consistent with Köbberling-Dunnigan syndrome, a rare inherited form of lipoatrophy. The patient's mother had the same body habitus and insulin-dependent diabetes mellitus. These cases suggest that partial lipodystrophy also affects muscle and is a cause of genuine muscular hypertrophy.

Adult↗
PubMedDate not supplied

Carcinogenicity of dermally administered 1,2-dihydro-2,2,4-trimethylquinoline monomer in F344 rats and B6C3F1 mice.

1,2-Dihydro-2,2,4-trimethylquinoline (TMQ) was evaluated in a 2-year study in which groups of 60 male or female F344 rats received 0, 36 or 60 mg kg(-1) (0, 0.022, or 0.037 mg cm(-2)) and groups of 60 male or female B6C3F1 mice received 0, 3.6 or 10 mg kg(-1) (0, 0.00136, 0.00435 mg cm(-2)) in acetone by topical administration. Survival of all treated groups was comparable to survival of controls. Mean body weights of female rats were lower than those of controls throughout the study but mean body weights of male rats and male and female mice were comparable to the mean body weights of controls. No neoplasms of the skin were observed in any group of rats or mice. Acanthosis at the site of application was increased in male and female rats that received 60 or 100 mg kg(-1) and hyperkeratosis was increased in female rats that received 60 mg kg(-1). The incidences of renal tubule adenoma and renal tubule adenoma or carcinoma were increased significantly in the 60 and 100 mg kg(-1) groups of male rats. There were no neoplastic or non-neoplastic lesions in mice associated with exposure to 1,2-dihydro-2,2,4-trimethylquinoline. In a 1-year initiation-promotion study, groups of 30 female SENCAR mice received an initiating dose of 50 mg kg(-1) 1,2-dihydro-2,2,4-trimethylquinoline followed by promotion with 12-O-tetradecanoylphorbol-13-acetate (TPA), or an initiating dose of 7,12-dimethylbenzanthracene (DMBA) followed by promotion with 5, 10 or 25 mg kg(-1) 1,2-dihydro-2,2,4-trimethylquinoline. Other groups served as initiator control, promoter control, vehicle control and positive control (DMBA initiation, TPA promotion). In this system, 1,2-dihydro-2,2,4-trimethylquinoline-initiated skin was not promoted by TPA, and DMBA-initiated skin was not promoted by 1,2-dihydro-2,2,4-trimethylquinoline.

Adenoma↗
PubMed2000

Developmental toxicity of 1,6-hexamethylene diisocyanate (HDI) in the Sprague-Dawley rat.

BACKGROUND: 1,6-Hexamethylene diisocyanate (HDI), a widely used chemical in commercial polyurethane manufacture, has been shown to affect the respiratory tract of experimental animals. However, its potential to affect neonatal development, particularly after inhalation exposure, is less well described. The present study was conducted to assess the developmental toxicity of HDI. METHODS: Gravid Sprague-Dawley rats were exposed to concentrations of 0, 0. 005, 0.050, or 0.300 ppm HDI via inhalation (whole-body exposure) on days 0-19 of gestation. Maternal toxicity, as demonstrated by clinical signs and changes in body weight gain during gestation, was characterized. Dams were sacrificed on gestation day 20, at which time fetuses were removed by cesarean section, the uterus was examined, and a gross maternal necropsy was performed. Maternal evaluation also included lung weight and a detailed histopathologic assessment of the nasal turbinates, larynx, trachea, and lungs. All fetuses were evaluated for external anomalies. Approximately one-half of each litter was examined for visceral effects, the other half underwent a skeletal (bone and cartilage) examination. RESULTS: Maternal toxicity was demonstrated in the 0.300- and, to a lesser extent, in the 0.050-ppm exposure groups. No maternal effects were noted in the 0.005-ppm group. Test compound-related maternal effects were restricted to histopathological findings and included acanthosis, hyperkeratosis, inflammation of the nasal turbinates, and, more seriously, degeneration of the olfactory epithelium. No pathological alterations were noted in the larynx, trachea, or lungs in any dose group. No test compound-related effects were observed on any reproductive parameters, or any embryonic endpoints, including pre/postimplantation loss and resorption. There were no effects on litter size or the number of fetuses per implantation site and no effects on fetal or placental weights were observed. No test compound-related fetal external, visceral, or skeletal findings were observed. No effect on the fetal or litter incidence of total malformations or variations was observed, and there was no difference in the incidence of malformations between males and females. CONCLUSIONS: Administered as described in this study, 1, 6-HDI produced maternal effects (nasal turbinate histopathology) at concentrations of 0.050 and 0.300 ppm with no developmental toxicity observed at any concentration.

Abnormalities, Drug-Induced↗
PubMed1975

Leukoplakia revisited. A clinicopathologic study 3256 oral leukoplakias.

During a 13-year period, 3256 specimens clinically diagnosed as leukoplakia (('keratosis," "white patch") were submitted to the oral pathology laboratories of Indiana University School of Dentistry and Emory University School of Dentistry. These comprised 6.2% of the tissue specimens processed by these laboratories. The cases were analyzed as to age of occurrence, site of involvement, and pathologic findings. It was found that: leukoplakia occurs chiefly in the 5th, 6th, and 7th decades; about half of the lesions involved the mandibular mucosa, mandibular sulcus, and buccal mucosa; leukoplakia was slightly more common in men (54.2%). Microscopic study showed that 80.1% of the leukoplakias were varying combinations of hyperorthokeratosis, hyperparakeratosis, and acanthosis without evidence of epithelial dysplasia. Mild to moderate epithelial dysplasia was noted in 12.2% of specimens, and severe epithelial dysplasia or carcinoma in situ was found in 4.5%. Infiltrating squamous cell carcinoma was diagnosed in 3.1% of specimens submitted with a clinical diagnosis of leukoplakia. The risk of epithelial dysplasia, carcinoma in situ, or carcinoma varied between the anatomical locations of leukoplakia. The incidence of epithelial alteration, ranging from dysplasia to carcinoma, was 42.9% for lesions of the floor of the mouth, 24.2% for tongue lesions, and 24.0% for lip leukoplakias. The incidence of similar epithelial alterations in other sites varied from 18.8% for palatal lesions to 11.7% for leukoplakias of the retromolar area. The data suggest that there are regional differences in the incidence and character of leukoplakia in the United States. The Emory material, obtained almost exclusively from patients residing in the Southeastern United States, showed a proportionately higher total incidence, a lower male/female ratio, and a greater frequency of epithelial dysplasia, particularly in females, than the Indiana material, which came almost entirely from residents in the Northcentral United States.

Adolescent↗
PubMed1980

Ackerman's tumor (verrucous carcinoma) of the larynx: a clinicopathologic study of 77 cases.

A series of 77 cases of verrucous carcinoma of the larynx is presented. The tumor is relatively rare and the present series has been selected from 2,398 primary and recurrent malignant neoplasms of the larynx and hypopharynx evaluated at the Department of Otolaryngology of Padua University during the period from January 1966 to December 1978. The median age of patients was 58 years. The tumor appears to be exophytic, broadly implanted and fungating in aspect, with papillary fronds and a locally invasive character. It is composed of highly differentiated epithelial squamous cells covered by a thick keratinized layer arranged in deeply invaginated folds. Cellular response in tumor stroma is marked, and the neoplasm has a low-grade malignancy. Close cooperation between the pathologist and the clinician is needed in order to establish the nature of the lesion, which looks clinically malignant but may appear histologically benign. Benign reponses such as hyperkeratosis, acanthosis, or the presence of a benign papillomatous area necessitate further investigation with another biopsy examination from deeper layers. The elective treatment is surgery, as irradiation may cause anaplastic transformation with metastatic spread. Neck dissection is not indicated as this laryngeal tumor has so far never metastasized to cervical lymph nodes or to other organs.

Adult↗
PubMed1985

Human papillomavirus infection of the esophagus. A clinicopathologic study with demonstration of papillomavirus antigen by the immunoperoxidase technique.

Papillomaviruses are known to be oncogenic in animals. In humans they are associated with benign squamous tumors (verruca, condylomata acuminata, and papillomas) in a variety of body sites. Human papillomavirus (HPV) infection of the esophagus, however, has not previously been documented. Recent reports of condylomatous changes in esophageal epithelium adjacent to esophageal carcinoma and the sporadic descriptions of esophageal papillomas in the literature for many years, lend credence to the assumption that HPV may affect the squamous mucous membrane of the esophagus. In the current study 75 cases, including 2 papillomas and 73 focal epithelial hyperplasia of the esophagus, were examined for histologic evidence of HPV infection as characterized by the presence of koilocytosis, giant and multinucleated cells, dyskeratosis, hyperkeratosis, acanthosis, papillomatosis, and anisonucleosis. Thirteen of the cases--the 2 papillomas and 11 of the focal epithelial hyperplasias--contained distinctive histologic evidence of HPV infection. The presence of HPV antigens was demonstrated by immunoperoxidase (IMPO) in the 4 of the 13 cases (31%). In the remaining cases the IMPO was equivocal in two and negative in seven.

Adult↗
PubMed1982

Autoantibodies to insulin receptors in man: immunological determinants and mechanism of action.

The insulin receptor is a membrane glycoprotein of high Mr which binds insulin with high affinity and specificity and transmits some intracellular signal(s) that initiate(s) insulin action. Antibodies to the receptor have been identified in patients with a syndrome characterized by severe resistance to endogenous and exogenous insulin, varying degrees of glucose intolerance, and the skin lesion acanthosis nigricans. The syndrome is most common in non-Caucasian, middle-aged women, but occurs in patients of all races, both sexes, and spanning the ages of 12-62. Most patients have evidence of other autoimmune disease with increased erythrocyte sedimentation rate and gamma globulins, anti-DNA and anti-nuclear antibodies, leucopenia, and other signs and symptoms of autoimmune disease. Antibodies to the insulin receptor are detected by their ability to inhibit 125I-insulin binding or to immunoprecipitate solubilized insulin receptors. In vitro these antibodies acutely mimic most of insulin's metabolic effects. This insulin-like activity depends on antibody bivalence; monovalent Fab fragments block insulin binding and action but lack intrinsic activity. With prolonged exposure of cells to anti-receptor antibody the insulin-like effect is lost and a state of insulin resistance ensues. This is due to both a blockage of insulin binding and a form of post-receptor desensitization. The possible causation of anti-receptor antibodies in this condition is discussed.

Antibody Specificity↗
PubMed2002

Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2.

Mutations in the fibroblast growth factor receptor genes (FGFR) have been known to be associated with many craniosynostosis syndromes with overlapping phenotypes. We studied a 15-year-old Thai boy with an unspecified craniosynostosis syndrome characterized by multiple suture craniosynostoses, a persistent anterior fontanel, corneal scleralization, choanal stenosis, atresia of the auditory meatus, broad thumbs and great toes, severe scoliosis, acanthosis nigricans, hydrocephalus, and mental retardation. Radiography revealed bony ankyloses of vertebral bodies of T9-12, humero-radio-ulnar joints, intercarpal joints, distal interphalangeal joints of fifth fingers, fibulo-tibial joints, intertarsal joints, and distal interphalangeal joints of the first toes. The patient was a heterozygous for a 870G --> T change resulting in a W290C amino acid substitution in the extracellular domain of the fibroblast growth factor receptor 2 gene (FGFR2). This mutation has previously been reported in a patient with severe Pfeiffer syndrome type 2 that is distinct from the craniosynostosis in our patient. These findings emphasize locus, allelic, and phenotypic heterogeneity of craniofacial-skeletal-dermatological syndrome due to FGFR2 mutations.

Abnormalities, Multiple↗
PubMed1984

Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: a new autosomal dominant syndrome.

We report on an autosomal dominant syndrome consisting of unique corneal epithelial changes, diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, premature birth, and dental problems. This condition has been present in seven persons in three generations of one family. Corneal biopsies demonstrate mild dysplastic changes in the epithelium. Skin biopsies show hyperkeratosis and acanthosis. In both eye and skin specimens, results of stains for polysaccharides, amyloid, and tyrosine were unremarkable. Roentgenograms of the hands show short distal phalanges, short 4th metacarpals, and constriction of the heads of some of the metacarpals. In three of four affected relatives, a variable medullary narrowness is seen. In mode of inheritance, clinical appearance, and/or associated defects. This syndrome appears to differ from previously reported conditions that include palmoplantar hyperkeratosis and/or corneal changes.

Adult↗
PubMed1992

Beare-Stevenson cutis gyrata syndrome.

Beare-Stevenson cutis gyrata syndrome consists of skin furrows of corrugated appearance, acanthosis nigricans, craniofacial anomalies, particularly craniosynostosis and ear defects, anogenital anomalies, skin tags, and prominent umbilical stump. Four cases of this striking syndrome are reported. Together with two previously reported cases, the syndrome is delineated from the six known cases. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet. Craniosynostosis is present in four cases, with cloverleaf skull in three of these. Intrauterine growth has been normal in all cases. Performance and life expectation appear to be related to the presence or absence of cloverleaf skull. All cases observed to date have been sporadic. Increased paternal age suggests the possibility of an autosomal dominant mutation.

Abnormalities, Multiple↗
PubMed1993

Further delineation of Costello syndrome.

We report on a 6-year-old girl with Costello syndrome. Main manifestations included poor postnatal growth, relative macrocephaly, curly hair, distinct "coarse" face, mild mental retardation, happy and sociable personality, loose dark skin particularly of hands and feet, acanthosis nigricans, thin deep set nails, enamel hypoplasia of teeth, and hyperextensible joints. The absence to date of perioral and nasal papillomata in this girl suggests that Costello syndrome is clinically recognizable even before appearance of such papillomata. Manifestations are compared to the four previously reported sporadic cases.

Abnormalities, Multiple↗
PubMed2003

Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis.

We report two patients with Beare-Stevenson syndrome. This syndrome presents craniosynostosis with or without clover-leaf skull, craniofacial anomalies, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, genital and anal anomalies. Both female newborn patients presented at birth with craniofacial anomalies, variable cutis gyrata in forehead and preauricular regions, prominent umbilical stump and anogenital anomalies. Furrowed palms and soles were also observed. The radiologic examination showed a cloverleaf-form craniosynostosis. Chromosomes were normal. They were born with respiratory distress and were connected to mechanical ventilation for ventilatory support. Both of them died in 50 days after birth due to secondary complications. The molecular analysis of these patients identified the mutation Tyr375Cys in the FGFR2 gene.

Abnormalities, Multiple↗
PubMed2003

Growth retardation, developmental delay, distinctive face, multiple endocrine abnormalities, and adenylyl cyclase dysfunction: a new syndrome?

We report on a 17-year-old male with severe pre- and postnatal growth retardation, craniosynostosis, distinctive facial features, acanthosis nigricans, deafness, mental retardation and progressive multi-organ involvement, particularly of the endocrine system, including hypothyroidism, hypogonadism, transitory hypoparathyroidism, and insulin resistance. In order to find a common mechanism explaining these multiple abnormalities, we searched for a possible defect in the signal transduction pathways from membrane to nucleus involving G-protein coupled receptors (GPCR). Adenylyl cyclase activity was evaluated by assaying c-AMP in the patient's cultured fibroblasts stimulated with several drugs and toxins acting on different effectors upstream of adenylyl cyclase. The preliminary results indicate a reduced cAMP accumulation in the patient, neither caused by constitutive activation of Gi nor inhibition of Gs signaling, and probably resulting from an alteration in the adenylyl cyclase system. The differential diagnosis with syndromes showing common clinical features with our patient is discussed.

Adenylyl Cyclases↗
PubMed2003

Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: a newly recognized syndrome?

We present three patients with congenital generalized lipodystrophy, sensorineural deafness, low birth weight, short stature, delayed cognitive development, and progressive bone changes characterized by overtubulation and rarefaction of long bones with dense metaphyseal striations occurring in adolescence. Abnormalities of lipid and carbohydrate metabolism, hepatosplenomegaly, acanthosis nigricans, and hirsutism were not found. Comparison of the condition of these patients with known syndromic lipodystrophies suggests that they represent a previously unrecognized genetic disorder. The occurrence in sibs born to consanguineous parents and a third patient from the same tribal unit suggest autosomal recessive inheritance.

Adolescent↗
PubMed2003

Constipation, polyps, or cancer? Let PTEN predict your future.

The inherited hamartoma polyposis syndromes encompass several distinct clinical syndromes with different genetic bases, Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), juvenile polyposis syndrome (JPS), and Peutz-Jeghers syndrome (PJS). Germline mutations in PTEN, encoding a tumor suppressor phosphatase on 10q23.3, is associated with 80% of CS and 60% of BRRS. JPS is caused by mutations in MADH4 and BMPR1A, encoding two members of the TGFB superfamily. Germline mutations in LKB1 (STK11) are associated with a subset of PJS. The number, distribution, and histologic type of polyps differ amongst these syndromes as do component cancer risks. While rare, usually asymptomatic, hamartomatous polyps are felt to be component to CS. Hamartomatous polyposis is usually prominent and symptomatic in BRRS. Polyposis, which can be quite symptomatic, is a cardinal component feature of PJS and JPS. Interestingly, glycogenic acanthosis of the esophagus is highly predictive of CS and the presence of PTEN mutation. PTEN mutation positive CS have been shown to be at increased risk of breast, thyroid, and endometrial cancer. PTEN mutation positive BRRS are at increased risk of at least breast cancer, possibly that of the thyroid as well. In contrast, JPS and PJS have increased risk of gastrointestinal cancers in particular. Thus, molecular-based diagnoses to differentiate each of these syndromes are important for medical management.

Colonic Neoplasms↗
PubMed2004

Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome.

We report two related Thai children having a new syndrome of microcephalic osteodysplastic primordial dwarfism (MOPD). The findings which classify them as having MOPD include IUGR, microcephaly, prominent nose and nasal bridge, small pinnae, short stature, cone-shaped and ivory-epiphyses, delayed bone age, slender long bones, and abnormal pelvis. The findings that distinguish them as having newly recognized syndrome consist of severe microdontia, malformed teeth, single-rooted or rootless teeth, severely hypoplastic alveolar bone, café au lait spots, acanthosis nigricans, and areas of hypo- and hyperpigmented skin. The reported patients appear to have the same condition as the family reported by Kantaputra [2002: Am J Med Genet 111:420-428]. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.

Abnormalities, Multiple↗