Acquired hair fragility in pili anulati: causal relationship with androgenetic alopecia.

Pili anulati are defined by characteristic alternating light and dark banding in the hair shaft, due to air-filled spaces between the macrofibrillar units of the hair cortex, and are regarded as a congenital hair shaft disorder without increased hair fragility. Two cases of pili anulati are presented, in which fragility of hair developed in a causal relationship with the onset of androgenetic alopecia. Accordingly, trichorrhexis-nodosa-like hair fracturing was exclusively limited to the androgenetic region. In general, secondary trichorrhexis nodosa is an unspecific finding related to excess stress of hair in relation to its fragility. With onset of hair thinning due to androgenetic alopecia, progressive reduction of hair shaft diameter may cause increased fragility in pili anulati. In this case, hair shaft fracturing occurs within the area of androgenetic alopecia and colocalizes with the air-filled cavities of pili anulati.

Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature.

A boy presented at age 3.5 months with joint contractures, restlessness, and pain on handling. His skin was thickened and there were livid-red macular lesions over bony prominences. Infantile systemic hyalinosis (ISH) was diagnosed, a presumably autosomal recessive, progressive, and painful disorder of as yet unknown pathogenesis. Observation over three years confirmed the diagnosis as typical changes, such as nodules on both ears, pearly papules in the perinasal folds and on the neck, fleshy nodules in the perianal region, and gingival hypertrophy, developed. Skin lesions and painful joint contractures progressed in spite of intense physiotherapy, and at age 3, the child had marked motor disability. The central nervous system (CNS) appeared to be intact and the infant showed normal mental development. Radiologic findings included marked generalized osteopenia, osteolytic erosions in the metaphyses of the long bones, and cortical thinning. Electron microscopy of two skin biopsies demonstrated deposition of floccular amorphous substance that was abundant around, and appeared to originate from, small blood vessels in the dermis, partially interfering with collagen fiber formation. Lysosomal inclusions were not seen. Serum acid hyaluronidase activity was within the normal range, and the synthesis of hyaluronic acid and proteoglycans in cultured skin fibroblasts was similar to that of control cells. A younger sister presented at age two months with painful joint contractures and discrete livid-red macules over both malleoli, and showed a similar progression of the disorder over the first year of life. The diagnosis of ISH should be considered in infants and children presenting with painful joint contractures and skin lesions. The pathogenesis of this disabling and disfiguring disorder remains unclear. Our data confirm probable autosomal recessive inheritance, and do not support lysosomal storage, hyaluronidase deficiency, or a primary collagen disorder, but indicate that the amorphous material accumulating in the skin and articular soft tissues may originate from the blood circulation.

[Trichorhinophalangeal syndrome. Case report and biophysical study of hair shaft parameters]. / Das Trichorhinophalangealsyndrom. Fallbeispiel mit untersuchung der biophysikalischen Haarschaftparameter.

In 1956 Klingmüller first described the trichorhinophalangeal syndrome (TRPS), which was named by Giedion ten years later. The syndrome includes a combination of typical hair, facial and bone abnormalities with variable expression allowing the further distinction of three subtypes. In a 37-year old patient with TRPS type I who reportedly had reduced hair growth length, clinically fine and brittle hair were found. Scanning electron microscopy revealed widely spaced cuticular scales. Quantitative measurement of the biomechanical properties of the hair showed a significant increase in the viscous parameter. This could be a result of decreased disulfide bridges and increased halogen bonds in the keratin matrix of the hair. In dermatological practice patients with TRPS often present because of hair abnormalities. Because of premature arthrosis due to skeletal abnormalities, occupational counseling is advised.Congenital heart problems, kidney abnormalities and endocrinological problems are rare, but should be sought in the symptomatic individual. Apart from mild hair care and avoidance of additional physical or chemical injuries due to hair cosmetic procedures,there is no treatment for the hair defects.

Hypercalcemic-type of small cell carcinoma of the ovary: characterization of a new tumor line.

BACKGROUND: The aim of this study was to develop and characterize a mouse xenograft model for the hypercalcemic-type of small cell carcinoma of the ovary (HTSCCO). PATIENTS AND METHODS: Tumor fragments were removed from a patient and cultured in six subsequent generations of nude mice. Histology, comparative genomic hybridization (CGH), electron microscopy and serum calcium levels were investigated. RESULTS: Morphology remained the same from the primary tumor of the patient through the 6th passage in the mouse. Serum calcium levels were significantly higher in the tumor-bearing mice compared to controls. CGH of the HTSCCO did not show evidence of a close relationship to either a germ cell tumor or an epithelial ovarian cancer. CONCLUSION: Some evidence was provided that the HTSCCO is an inhomogeneous tumor that is neither related to a germ cell tumor nor to an epithelial ovarian cancer, but is a distinct tumor entity.

Enteric infections and diarrhea in human immunodeficiency virus-infected persons: prospective community-based cohort study. Swiss HIV Cohort Study.

BACKGROUND: Persons infected with human immunodeficiency virus (HIV) are at increased risk for diarrhea and enteric infections. We studied (1) the epidemiology of enteric pathogens associated with diarrhea, (2) the diagnostic yield of stool examination and endoscopic evaluation, (3) risks to develop diarrhea, and (4) the impact of diarrhea on patients' survival. METHODS: A total of 1933 participants in the Swiss HIV Cohort Study were prospectively followed up for a median of 25.5 months. A total of 560 diarrheal episodes were evaluated by standardized stool examination. Endoscopic evaluation was performed in 25% of patients with chronic diarrhea. RESULTS: The incidence of diarrhea was 14.2 per 100 person-years (95% confidence interval, 13.0-15.4). Among patients with CD4 cell counts below 0.05 x 10(9)/L, the probability to develop diarrhea within 1, 2, and 3 years was 48.5%, 74.3%, and 95.6%, respectively. The risk to develop diarrhea was increased among patients with severe immunodeficiency, homosexual men, and patients taking antiretroviral therapy. Pneumocystis carinii chemoprophylaxis did not reduce the risk of diarrhea. Diarrhea was an independent negative predictor of survival. Enteric pathogens were detected in 16.5% of 212 acute diarrheal episodes and in 46% of 348 chronic diarrheal episodes. The sensitivity of histological and stool examination was similar except for the diagnosis of intestinal cytomegalovirus infection and leishmaniasis, which required invasive evaluation. CONCLUSIONS: Intestinal infections were diagnosed in less than 50% of chronic diarrheal episodes. The prevalence of enteric pathogens tended to decrease during the observation period, possibly because of improved antiretroviral therapy. Endoscopic evaluation did not improve the diagnostic yield compared with stool examination except for the diagnosis of cytomegalovirus enteritis and leishmaniasis.

Analysis of two bone-prosthesis interfaces and membranes from non-cemented trapeziometacarpal prostheses.

The non-cemented Ledoux trapeziometacarpal prosthesis has a high failure rate. In order to better understand the mechanism responsible for pain and loosening, we thoroughly analysed the membranes surrounding the prosthesis and the bone-prosthesis interface in two trapezia, each containing a Ledoux cup, which were resected after unsuccessful implantation. Serial sections, perpendicular to the longitudinal axis of the implanted cup, allowed histological examination of the interface and were used to quantify bone apposition. The tissues surrounding the prosthesis showed a foreign-body reaction to particles identified as titanium. The interface showed bony integration of the cup, mainly on the radial side and on the proximal part of the cup, with an appositional index of 28%. Our findings suggest that bony apposition might not be sufficient to ensure successful anchoring of the Ledoux cup in the trapezium in the presence of an intense foreign body reaction to titanium. Moreover, the presence of metal might be secondary to micromotion of the wings of the metallic part of the cup, induced by axial movement of the underlying polyethylene during pinch grip. The combination of polyethylene as an expander and titanium may need to be reviewed.

Histopathologic and ultrastructural study of lupus-like skin lesions in a patient with Bloom syndrome.

The histopathology of the lupus-like skin lesions associated with Bloom syndrome has been sporadically described. Skin biopsies from a 2-year-old boy with the classical features of Bloom syndrome, including lupus-like skin lesions, demonstrated marked interface changes with basal liquefaction degeneration, a moderate superficial mononuclear infiltrate, pigmentary incontinence, and capillary dilation in the papillary dermis. Immunophenotyping of the dermal infiltrate revealed predominance of T-cells. Basement membrane thickening on periodic acid-Schiff examination was not seen. Direct immunofluorescence failed to demonstrate deposits of immunoglobulin other than nonspecific IgM deposition along the basement membrane zone of lesional skin. Ultrastructurally, the most striking findings were disintegration of basal cell cytoplasm and tubuloreticular inclusions in vascular endothelia. Taken together, the histologic and ultrastructural features of lupus-like lesions associated with Bloom syndrome mimic those of cutaneous lupus erythematosus, with the exception of paucity of immune deposits at the dermoepidermal junction.

Scarring folliculitis in the ectrodactyly-ectodermal dysplasia-clefting syndrome. Histologic, scanning electron-microscopic and biophysical studies of hair.

Several clinical syndromes are characterized by ectodermal dysplasia (ED) in association with clefting of the lip and/or palate. In these syndromes, alopecia is primarily due to abnormalities of the hair shaft associated with increased hair fragility. Scalp dermatitis is yet another peculiar finding, primarily seen in the ankyloblepharon-ED-clefting (AEC) syndrome. We report on a 16-year-old patient with ectrodactyly-ED-clefting (EEC) syndrome, who exhibited a scarring alopecia due to deep folliculitis. On scanning electron microscopy, irregular torsion and longitudinal grooving of the hair shaft (pili torti et canaliculi) were observed. Quantitative determinations of the elastic and viscous parameters of hair demonstrated a normal viscosity but a significantly reduced hair elasticity, indicating either an abnormal composition or a disordered arrangement of microfibrils within the apparently normal keratin matrix. In contrast to the erosive scalp dermatitis of early onset in the AEC syndrome, alopecia in this case of EEC syndrome demonstrated follicular scarring with onset during puberty. We question a possible role of the anatomical hair abnormality in the pathogenesis of chronic deep folliculitis in this and clinically related syndromes.

[Primary ciliary dyskinesia in situs inversus without bronchiectasis]. / Primäre ziliäre Dyskinesie mit Situs inversus ohne Bronchiektasen.

BACKGROUND: In adults suffering from Kartagener's syndrome-which is found in 50% of patients with primary ciliary dyskinesia (PCD)-bronchiectasis is still one of three typical clinical features. In this condition it is caused by chronic bacterial inflammation as a result of impaired mucociliary clearance in congenital ciliary dysfunction. Little information is available on the incidence, age-related development and prophylactic therapy of bronchiectasis in children suffering from PCD. CASE REPORT/RESULTS: We describe the case of a 2-year old boy with clinical features of Kartagener's syndrome who showed impaired ciliary motility and typical ultrastructural defects of PCD. Bronchiectasis was excluded by bronchography. CONCLUSIONS: The diagnosis of PCD implies disturbed ciliary motility and abnormal ultrastructure of the cilia. In 50% of cases PCD is associated with situs inversus and is then referred to as kartagener's syndrome, whereas situs inversus itself does not define Kartagener's syndrome. Bronchiectasis is not necessarily present in children with PCD. Physiotherapy, inhalations, vaccinations and early antibiotic treatment may be of prophylactic value in preventing bronchiectasis. Early start of the life-long treatment depends on early diagnosis which should be based on well-defined criteria.

Mucolipidosis type II in a domestic shorthair cat.

A seven-month-old, female domestic shorthair cat was presented to the Veterinary Teaching Hospital, University of Zurich, with abnormal facial features, retarded growth and progressive hindlimb paresis. On physical examination the cat had a flat, broad face with hypertelorism, frontal bossing, small ears and thickened upper and lower eyelids. The corneas of both eyes were clear and the pupils were dilated. The skin was generally thickened, most prominently on the dorsal aspect of the neck. Radiography of the entire skeleton revealed a severely deformed spinal column, bilateral hip luxation with hip dysplasia, an abnormally shaped skull and generalised decreased bone opacity. The clinical features and radiographic changes were suggestive of mucopolysaccharidosis. The toluidine blue spot test on a urine sample, however, was negative for glycosaminoglycans. Further biochemical investigations revealed a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase, EC 2.7.8.17) in peripheral leukocytes and an elevation of many lysosomal enzymes in the serum of the cat which is diagnostic for mucolipidosis type II. Histology and electron microscopy of different tissues are briefly summarised. The findings of this cat, the first reported case of mucolipidosis type II are compared with other similar storage diseases described in the cat.

Liver glycogen synthase deficiency: a rarely diagnosed entity.

UNLABELLED: Three children from two German families are described and the observation compared with the previously published three families comprising eight patients. The two index cases presented with morning fatigue, had ketotic hypoglycaemia when fasting which rapidly disappeared after eating, and hepatic glycogen deficiency and absent or very low hepatic glycogen synthase activity. Metabolic profiles comprising glucose, lactate, alanine, and ketones in blood were typical for hepatic glycogen synthase deficiency. Symptoms were rapidly relieved and chemical signs corrected by introducing frequent protein-rich meals and night-time feedings of suspension of uncooked corn (maize) starch. The discovery of oligosymptomatic and asymptomatic siblings suggests that there are more persons with undiagnosed hepatic glycogen synthase deficiency. CONCLUSION: Liver glycogen synthase deficiency is likely to be more common than is believed today. It should be sought in children who, before the first meal of the day, present with drowsiness, lack of attention, pallor, uncoordinated eye movements, disorientation or convulsions and who have hypoglycaemia and acetone in urine.

[Adult form of GM2-gangliosidosis: a man and 2 sisters with hexosaminidase-A and -B deficiency (Sandhoff disease) and literature review]. / Adulte Form der GM2-Gangliosidose: drei Geschwister mit Hexosaminidase-A- und -B-Mangel (Morbus Sandhoff) und Literaturübersicht.

Three adult siblings had atypical progressive spinal muscular atrophy of the limb-girdle type, predominantly sensory polyneuropathy and cerebellar ataxia. Hexosaminidase A and B activity was profoundly decreased in serum, leukocytes and cultured fibroblasts. GM2-gangliosidosis, variant O (Sandhoff disease) was diagnosed. Mechano-allodynia was the presenting symptom in two of the patients. After 50 years of disease evolution, the patients led an independent life and were intellectually normal. The literature on the adult form of GM2-gangliosidosis is reviewed.

Spontaneous mucolipidosis in a cat: an animal model of human I-cell disease.

A 7-month-old female cat was seen for abnormal facial features and abnormality of gait. Facial dysmorphism, large paws in relation to body size, dysostosis multiplex, and poor growth were noted, and mucopolysaccharidosis was suspected. A negative urine test for sulfated glycosaminoglycans and extreme stiffness of skin indicated a mucolipidosis hitherto unknown in animals. Deficiency of UDP-N-acetylglucosamine: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase, EC 2.7.8.17) activity was demonstrated in leukocytes and cultured fibroblasts, which had the appearance of inclusion cells (I-cells). Activities of a set of lysosomal hydrolases were abnormally low in fibroblasts and excessive in blood plasma. Postmortem morphology revealed lysosomal inclusions predominantly in fibroblasts but also in endothelial cells and chondrocytes, i.e., in cells of mesenchymal origin. Storage lysosomes contained oligosaccharides, mucopolysaccharides, and lipids. Tissues most affected were bones, cartilage, skin, and other connective tissues such as those in heart valves, aortic wall, and vocal cords. Parenchymal cells of liver and kidney were unaffected, as was skeletal muscle. Only a few of the cerebral cortical neurons had lipid inclusions; in sciatic nerve some axons were affected, but other peripheral nerves were normal. There were striking clinical, biochemical, and morphologic similarities between the disorder in this cat and the human I-cell disease.

Trichorhinophalangeal syndrome.

Trichorhinophalangeal syndrome (TRPS) comprises a distinctive combination of hair, facial and bony abnormalities with variable expression. A 20-year-old man with TRPS was seen because of marked androgenetic alopecia. Scanning electron-microscopic studies of the hair revealed flattened hair with an elliptoid transverse section pattern. Mechanical behavior of the hair was abnormal with a significant increase in the viscous parameter, indicating a decreased intermolecular bridging within the keratin matrix. The dermatologist confronted with premature or marked alopecia in young adults should always consider the possibility of an underlying congenital syndrome involving the hair and prompt further investigation.

Detection of Septata intestinalis in stool specimens and coprodiagnostic monitoring of successful treatment with albendazole.

We describe two patients with AIDS and chronic diarrhea in whom the microsporidian Septata intestinalis was detected with use of light and electron microscopic coprodiagnostic techniques. The ultrastructure of the microsporidian spores found in their stool specimens was distinctly different from that of Enterocytozoon bieneusi, another intestinal microsporidian found in patients infected with human immunodeficiency virus. Electron microscopic examination of duodenal biopsy specimens available from one of the patients enabled identification of S. intestinalis and confirmed the similarity of spores found in feces and in duodenal tissue. Both patients' diarrhea stopped when they were treated with albendazole. Coprodiagnostic monitoring indicated disappearance of the parasites and allowed the diagnosis of a relapse in one patient, who responded well to a second course of treatment.

Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency.

A male cat 12-14 weeks old had walking difficulties and an enlarged abdomen. Facial dysmorphism, plump paws, corneal clouding, granulation of neutrophils, vacuolated lymphocytes, and a positive urine test for sulfated glycosaminoglycans suggested mucopolysaccharidosis. Cultured fibroblasts incorporated 35SO4 into mucopolysaccharides more actively than did fibroblasts of a feline control, and degradation was far inferior. Activity of beta-glucuronidase was absent in leukocytes and markedly reduced in fibroblasts, thus establishing the diagnosis of mucopolysaccharidosis VII, a disorder previously described in humans, dogs, and mice. Light microscopic examination revealed foam cells in virtually all organs examined, and electron microscopic examination showed pancytic storage of floccular material characteristic of mucopolysaccharides. Stored sphingolipids in the form of zebra bodies were seen in ganglion cells of the central nervous system and in smooth muscle cells of blood vessels. This case represents another animal model of mucopolysaccharidosis VII with the full disease characteristics known in human patients.

[Pili torti et canaliculi in ectodermal dysplasia]. / Pili torti et canaliculi bei ektodermaler Dysplasie.

Uncombable hair is a heterogeneous symptom with a partially genetic background. In order to make an exact diagnosis, it is mandatory to recognize associated abnormalities, do pedigree analyses, and perform scanning electron microscopic studies of the hair. In a case of ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome and in a patient with familial tricho-odonto-onychial ectodermal dysplasia with syndactyly, scanning electron microscopy demonstrated pili torti et canaliculi, helicotrichia and cuticular dystrophy. Congenital pili torti et canaliculi must be differentiated from pili torti and from pili trianguli et canaliculi ("cheveux incoiffables"), inasmuch as they may present in hypotrichosis congenita hereditaria of Marie-Unna or as part of complex ectodermal dysplasia syndromes with clefting of the lip/palate and/or limb defects. It is noteworthy that some of those patients show a dysmorphic facies and an atopic constitution in addition to the aforementioned abnormalities. We discuss the possible relationship of these syndromes to each other, with special respect to the Hay-Wells or ankyloblepharon, ectodermal dysplasia, cleft lip/palate (AEC) and the Rapp-Hodgkin (ectodermal dysplasia, midfacial hypoplasia, cleft lip/palate) syndromes.

Oral cornstarch therapy: is persorption harmless?

Sediments prepared from freshly voided urine of four patients with glycogenosis Ia, or leucine-sensitive hypoglycaemia, on oral cornstarch therapy contained starch granules, evidence for persorption i.e. the incorporation of undissolved starch particles. In these patients, amyluria was more marked than in untreated controls. While cornstarch therapy is successful and causes few side-effects, the possibility of late adverse reactions to persorbed starch should not be disregarded.

Alveolar haemorrhage as a presenting feature of myeloma.

An immunoglobulin A (IgA)-paraprotein secreting myeloma was found to be the underlying disease in a patient who presented with alveolar haemorrhage. The diffuse pulmonary bleeding stopped after initiation of treatment consisting of corticosteroids and melphalan. A paraprotein mediated lesion of the alveolar capillary membrane was suspected but could not be demonstrated.

Pulmonary and intestinal microsporidiosis in a patient with the acquired immunodeficiency syndrome.

The microsporidian protozoan organism Enterocytozoon bieneusi has been found in enterocytes of the small intestine in patients infected with human immunodeficiency virus, and it has been recognized as an important cause of chronic diarrhea in this patient group. We report the first case of a 41-yr-old man with acquired immunodeficiency syndrome in whom microsporidia were detected in bronchoalveolar lavage fluid, transbronchial lung biopsies, stool specimens, and ileal biopsies. He experienced chronic diarrhea, wasting syndrome, chronic cough, and dyspnea. His chest roentgenogram showed a small left posterobasal infiltrate and a small left pleural effusion. The histologic pattern of microsporidia in his bronchial and ileal tissue and the cellular inflammatory reaction with intraepithelial infiltration by lymphocytes were identical to findings described in duodenal and jejunal Enterocytozoon bieneusi microsporidiosis. An association between the presence of microsporidia in the lung and the pulmonary symptoms has yet to be determined. It is not known whether pulmonary microsporidiosis was acquired by the aerosol route, by aspiration, or by hematogenous dissemination from the intestine.