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PubMed1995

Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion.

A case of a true hermaphrodite presenting with a karyotype of 46,X,del(X)(p21.1-->pter) is described. The testis-determining gene, SRY, was not detected in DNA prepared from either peripheral blood lymphocytes or from a gonad biopsy. The patient also presented with a series of discrete somatic abnormalities, including abnormal skin and retinal pigmentation, and mental retardation. The extent of the Xp deletion was mapped by Southern blotting. X chromosome replication studies of lymphoblast cells prepared from the patient indicated that the deleted X chromosome was inactivated in all cells examined. It is suggested that the phenotype of the patient is caused by the unmasking of a recessive allele(s) on the grossly intact X chromosome. The relationship between the Xp deletion, the intersex phenotype, and the possible role of an Xp locus involved in human sex determination is discussed.

Child↗
PubMed1985

Problems in prenatal diagnosis of the ichthyosis congenita group.

The late onset of normal keratinization after week 24 menstrual age (MA) of fetal life is the cause of considerable problems with the prenatal diagnosis of congenital ichthyosis. This paper summarizes the experiences with prenatal diagnosis in nine pregnancies at risk of congenital ichthyosis and one at risk of chondrodysplasia punctata, rhizomelic type. An important prerequisite--and the main problem--is the manifestation of the mutant genes early enough in fetal life to allow a safe exclusion. Continuous precocious keratinization of the interfollicular epidermis, hyperkeratosis, and/or specific markers of congenital ichthyosis such as various types of lipid inclusions had been expected. With a normal ultrastructure and development of fetal epidermis no evidence of ichthyosis was present in eight cases; all eight children were born healthy. Regional variations of the onset of keratinization of the interfollicular epidermis, observed in one of these eight fetuses as well as in one fetus at risk (but normal for) recessive dystrophic epidermolysis bullosa, posed considerable problems and might lead to a false-positive diagnosis. Examination after birth allowed one to localize these regions to areas close to the mamillae. Regional variations in addition to the well-known cranio-caudal gradient thus are normal findings: both children have normal skin. One fetus at risk of non-bullous congenital ichthyosiform erythroderma (type II) was involved without prenatal manifestation of interfollicular keratinization, specific markers, or increased numbers of cornified cells in the pilosebaceous follicles at 20 weeks MA. A slightly more irregular pattern of the horn cell contents was not regarded as sufficient evidence alone to indicate congenital ichthyosis. A severely affected boy was born in week 34 MA. Similarly the fetus at risk of chondrodysplasia punctata showed no skin abnormalities, neither at fetoscopy (week 22 MA) nor after abortion (week 24 MA) although based on other clinical features it was clearly affected. Thus, this genodermatosis cannot be diagnosed prenatally by its keratinization disturbances. In future cases, precocious keratinization and hyperkeratosis cannot be expected to be expressed before week 24 MA, and minor signs, such as irregularities of horn cell contents, have to be taken as an indication of involvement. Multiple biopsies are required, and a safe exclusion may be impossible before week 22 MA.

Epidermis↗
PubMed1989

Immediate breast reconstruction with subpectoral implantation after transaxillary subcutaneous mastectomy for siliconoma.

Immediate breast reconstruction on 14 patients suffering from breast hardening after augmentation mammaplasty by injection of silicone gel was performed. Transaxillary subcutaneous mastectomy was done followed by insertion of a double-lumen prosthesis into the subpectoralis plane. The result was greatly influenced by the amount of injected silicone gel. The patient was carefully observed after surgery, and the prosthesis was immediately removed when abnormal skin changes became apparent. Seven cases had no hardening on either side and 1 case had hardening on one side, 3 cases had hardening on both sides and 1 case on one side, 2 cases had the prosthesis removed from both sides and 2 cases from one side. All other cases with hardening or prosthesis removal, except one with removal from both sides, were subsequently reconstructed after more than three months.

Adult↗
PubMed1994

Effective stimulation of neutropoiesis with rh G-CSF in dyskeratosis congenita: a case report.

Dyskeratosis congenita (DC) is a rare congenital X-linked disorder. The major clinical manifestations are abnormal skin pigmentation, nail dystrophy, and leukoplakia of mucosal membranes. About 50% of the patients develop bone marrow failure, which is partly responsible for the poor prognosis. Recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF) has been administered to some neutropenic patients with DC, but only a moderate stimulation of neutropoiesis has been observed. We report on a patient with DC treated with recombinant human granulocyte-colony-stimulating factor (rhG-CSF). This treatment resulted in a substantial dose-dependent increase in the neutrophil count.

Adult↗
PubMed1994

Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients.

Comprehensive data on 30 patients with propionic acidaemia, diagnosed by selective screening for inborn errors of metabolism, are presented. The most valuable diagnostic metabolites found were methylcitric-, 3-hydroxypropionic-, and 2-methyl-3-oxovaleric acids. Hyperlysinaemia and hyperlysinuria are also characteristic findings in this disease. The metabolic pattern found in propionic acidaemia is discussed extensively as are enzymatic findings. Residual activity of propionyl-CoA carboxylase is neither a predictive marker for severity nor for outcome of the disease. Propionate fixation assays were less reliable for confirmation of propionic acidaemia and of no prognostic value. Clinical presentation of the disease is discussed in detail. Besides the well-known unspecific findings (poor appetite, feeding difficulties, vomiting, dehydration, weight loss, muscular hypotonia, dyspnoea, somnolence, apathy, convulsion, coma, severe metabolic acidosis, hyperammonaemia) various skin abnormalities have been detected in about 50% of all patients. In 27% "dermatitis acidemica" was found.

Amino Acid Metabolism, Inborn Errors↗
PubMed2005

Scurvy in infantile tremor syndrome.

Infantile Tremor Syndrome is a distinct clinical entity most commonly seen in Indian Subcontinent. Syndrome consists of tremors, mental and developmental retardation, abnormal skin pigmentation and anemia in children between 6 months to 2 years. The etiology is still elusive. Amongst various theories, nutritional theory is the most accepted. So far there are no cases reported of vitamin C deficiency in ITS. In this article, three cases of ITS associated with vitamin C deficiency are reported.

Age Factors↗
PubMed2002

[Skin manifestations of Fanconi anemia].

Fanconi's anemia is a rare autosomal recessive disorder associated with variable clinical manifestations. So far, eight complementation groups have been identified, and the genes of four of them have been cloned. Early-onset progressive bone marrow failure and a predisposition to malignancies, particularly acute myelogenous leukemia, liver tumors, and mucocutaneous squamous cell carcinomas, result in a poor prognosis. Additionally, almost all organs can be affected by this defect. Widespread areas of hyper- and hypopigmentation of the skin in a characteristic pattern and café-au-lait spots preceding the manifestation of panmyelopathy can aid early diagnosis. Here we report an 11-year-old boy with Fanconi's anemia presenting with typical cutaneous manifestations. We emphasize the important role of skin abnormalities of Fanconi's anemia as signs enabling early diagnosis. Moreover, we summarize clinical features, course, therapy, and new aspects of the molecular basis of Fanconi's anemia.

Adolescent↗
PubMed2005

[Plastic surgery of skin defects in the face. Principles and perspectives].

The difficulties in facial reconstruction derive from the unique character of the face and the availability of local matching tissues. Facial reconstructive surgery must aim at a functionally and aesthetically rehabilitated patient. The performance of facial plastic surgery requires an understanding and the application of many important principles. The aim of this paper is to review the critical factors to be considered in the management of surgical wounds by second-intention healing, primary closure, skin grafting, and repair with local or distant free flaps. The key concepts useful in flap choice and implementation are discussed. In addition, an overview of new developments in tissue engineering and gene therapy as they relate to facial plastic surgery is provided.

Face↗
PubMedDate not supplied

Complications of breast augmentation with injected hydrophilic polyacrylamide gel.

Since 1997, the hydrophilic polyacrylamide gel (PAAG), an injectable alloplastic biomaterial, imported from the Ukraine has been used for augmentation mammaplasty in China. There were twelve patients with various complications visiting our hospitals after breast augmentation with injected hydrophilic polyacrylamide gel by other clinics, even though such procedures are not performed in our clinical practices. The complications included four cases of PAAG-induced multiple induration and lumps, and one with lactation, three cases of hematoma, two cases of inflammation (infection), and persistent mastodymia, unsatisfactory contour results and abnormal skin sensations in each case. All patients have been treated by removing the injected gel and giving antibiotics. Other procedures included replacement by silicon breast prostheses, mammotomy, and segmental mastectomy. We suggest that the injectable hydrophilic polyacrylamide gel be contraindications for breast augmentation in any young female who is not married, or without a child, with a tendency to hemorrhage, and with little mammary tissue. Some considerations to prevent and manage these complications are discussed.

Acrylic Resins↗
PubMed2003

Differential diagnosis of Fanconi anemia by nitrogen mustard and diepoxybutane.

Fanconi anemia (FA) is an autosomal recessive inherited disorder which is associated with a variety of congenital anomalies. These include morphometric abnormalities involving mainly the head and face, skeletal malformations particularly of the radial ray, growth retardation, abnormal skin pigmentation, deafness, and renal, ocular, genital, and cardiac defects. The cardinal clinical feature is a severe progressive pancytopenia. The overall aim of our study was to compare two different alkylating agents that would permit rapid and unequivocal detection of FA. A total of 271 patients underwent nitrogen mustard (NTM) and diepoxybutane (DEB) tests in our laboratory; baseline chromosomal breakage was studied for all of them. After the results of the chromosomal breakage studies, 72 patients were diagnosed as affected and 136 patients as unaffected by FA. We also studied 63 family members of FA patients. According to our study, NTM seems more specific to identify chromosomal breakages in FA parents than DEB.

Alkylating Agents↗
PubMed1998

A new mutation Rim3 resembling Re(den) is mapped close to retinoic acid receptor alpha (Rara) gene on mouse chromosome 11.

A new mouse mutation, recombination-induced mutation 3 (Rim3), arose spontaneously in our mouse facility. This mutation exhibits corneal opacity as well as abnormal skin and hair development resembling rex denuded (Re(den)) and bareskin (Bsk). Large-scale linkage analysis with two kinds of intersubspecific backcrosses revealed that Rim3 is mapped to the distal portion of Chromosome (Chr) 11, in which Re(den) and Bsk have been located, and is very close to the retinoic acid receptor, alpha (Rara). The genes, keratin gene complex-1, acidic, gene 10, 12 (Krt1-10, 12), granulin (Grn), junctional plakoglobin (Jup) and Rara, all of which regulate growth and differentiation of epithelial cells, are genetically excluded as candidate genes for Rim3, but are clustered in the short segment on mouse Chr 11.

Animals↗
PubMed2006

[Reconstruction of skin defects in the eyelid and periorbital region using four triangular advancement flaps. An alternative to free skin grafts].

PURPOSE: This report presents a procedure as an alternative to free skin grafts for reconstruction of rhomboid skin defects in the lid region. METHOD: Ten consecutively treated patients were included who had skin defects after resection of eyelid tumors such as basaliomas. The skin defects were rhomboid and had the same horizontal and vertical diameter (medium 1.5 cm) and were therefore too large for a horizontal advancement flap. The defects were closed by preparation of four triangular skin flaps that were sutured crosswise into the defect. RESULTS: The procedure was adequate for reconstruction of the defect in all ten cases. There were no lid malpositions and the cosmetic results were favorable in all cases. The medium operation time was significantly shorter in comparison to free skin grafts. CONCLUSIONS: Application of free skin grafts is a standard procedure for reconstruction of anterior lamellar lid defects. Triangular transposition flaps can be a timesaving alternative with good cosmetic results.

Aged↗
PubMed2003

Genetics of arrhythmogenic right ventricular cardiomyopathy--status quo and future perspectives.

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a primary myocardial disorder of unknown origin. In recent years, the disease has been recognized as a major cause of ventricular tachyarrhythmias and sudden cardiac death in young patients with apparently normal hearts. Although characteristic structural, imaging and electrocardiographic features are included in a proposed catalogue of diagnostic criteria, the correct diagnosis of ARVC often remains difficult. Much effort has been undertaken to enlarge the knowledge on pathophysiological mechanisms of the disease. The role of molecular genetics for the pathogenesis of ARVC is discussed in the following review. On the basis of linkage analyses in large families affected by ARVC, there is growing evidence for genetic alterations in ARVC, which, in the majority of chromosomal loci (seven) reported so far, follow a Mendelian autosomal-dominant pattern of inheritance with variable penetrance and polymorphic phenotype. Besides this, two autosomal-recessive forms of ARVC are known. These can be differentiated from the autosomal-dominant forms not only in terms of the mode of inheritance but also as to their specific phenotype: patients with Naxos disease exhibit characteristic hair and skin abnormalities and experience a more severe course of disease. Patients with another autosomal-recessive form display the typical but milder signs of ARVC together with opacifications of the crystalline lens. So far, two mutations in cardiac genes responsible for the development of ARVC have been reported. A homozygous two base pair deletion in the gene encoding for the cytoskeletal protein plakoglobin seems to account for the evolution of Naxos disease. The second mutation affecting the cardiac ryanodine receptor gene was found in patients with ARVC-2. Routine genetic testing of patients or relatives with a suspected diagnosis of ARVC is not available at present but may become the future gold standard with potential implications for a better understanding of the pathogenesis and management of the disease.

Abnormalities, Multiple↗
PubMed2003

Necrotising myopathy, an unusual presentation of a steroid-responsive myopathy.

OBJECTIVE: To evaluate the clinical features, muscle pathology and response to treatment in patients with a necrotising myopathy, without mononuclear cell infiltrates. BACKGROUND: Mononuclear cell infiltrates in the muscle biopsy specimen are the diagnostic hallmark of the immune-mediated idiopathic inflammatory myopathies (IIM). In patients with the typical clinical features of IIM, absence of these infiltrates in the muscle biopsy specimen casts doubt on the diagnosis and leads to uncertainty about therapeutical strategies. METHODS: A detailed description is given of the clinical, laboratory, and histopathological features of eight patients suspected of having an idiopathic inflammatory myopathy, in whom mononuclear cell infiltrates in their muscle biopsy specimens were lacking. RESULTS: Eight patients (five men, three women, age range 40-69 years) had severe, symmetrical proximal weakness with a subacute onset. There were no skin abnormalities suggesting dermatomyositis. Serum creatine kinase activity was more than 10 times elevated. Repeated muscle biopsy specimens, taken from a symptomatic muscle prior to immunosuppressive treatment showed widespread necrosis, regeneration, and atrophy of muscle fibres, but no mononuclear cell infiltrates. Known causes of necrotising myopathy were excluded. Three patients had a malignancy. Adequately dosed and sustained immunosuppressive treatment eventually resulted in normal or near normal muscle strength in seven patients. One patient showed marked improvement. CONCLUSION: Occasionally, patients who clinically present as an idiopathic inflammatory myopathy may lack mononuclear cell infiltrates in their muscle biopsy specimens. This subacute-onset progressive necrotising myopathy should not deter the clinician from timely and appropriate treatment as we consider this myopathy to be steroid-responsive with a possible immune-mediated pathogenesis.

Adult↗
PubMed2000

A novel navel presenting as an umbilical polyp and urachal sinus associated with an epigastric cleft: a clue to anterior midline fusion defects.

Umbilical and periumbilical disorders may present with a diverse group of anomalies and reflect the developmental embryological events they result from. A rare occurrence in a newborn of an umbilicus with an umbilical polyp together with an urachal sinus associated with a supraumbilical abnormal skin area known as epigastric cleft is reported herein, to help to elucidate embryological steps of anterior midline fusion defects and urachal remnants.

Female↗
PubMed2006

The ocular manifestations of atopic dermatitis and rosacea.

Atopic dermatitis and rosacea are chronic diseases that have both dermatologic and ocular manifestations. The occurrence of ocular disease is often proportionately higher than that of dermatologic disease. Even if the skin abnormalities appear well controlled, these patients require ophthalmic evaluation as well. Optimal management usually requires a team approach that includes internists, dermatologists, and ophthalmologists. Both disorders are characterized by acute exacerbations and require maintenance therapy for control. Exacerbations need aggressive treatment to limit ocular signs and symptoms and to reduce ocular inflammation that can lead to permanent visual loss. Topical corticosteroid use, although at times needed, should be minimized for both disorders. Future research will continue to emphasize the use of steroid-sparing and immune-modulating agents that have the potential to provide long-lasting anti-inflammatory control with a more favorable side-effect profile.

Adrenal Cortex Hormones↗
PubMed1989

Progression to AIDS in patients with lymphadenopathy or AIDS-related complex: reappraisal of risk and predictive factors.

PURPOSE: In 1985, we reported that acquired immunodeficiency syndrome (AIDS) developed in 14 of 81 (17%) men with generalized lymphadenopathy followed prospectively for an average of 13 months. The presence of oral thrush or constitutional symptoms, or both, or severely impaired T4+ cell responses to specific antigen (interferon-gamma production) accurately identified patients at immediate risk for AIDS. The purpose of the current report is to describe the progress of these 81 patients during the three and a half years since enrollment and to include new data on initial serum levels of beta 2 microglobulin and human immunodeficiency virus (HIV) p24 antigen. PATIENTS AND METHODS: The mean age of the 81 patients was 35.4 years; 79 were homosexuals and two were drug abusers. Immunologic testing was performed once at the time of enrollment in all patients. Seventy-seven of the 81 patients were seropositive for HIV antibody. Frozen samples of serum, also obtained at initial study, were assayed in 1988 for beta 2 microglobulin and HIV p24 antigen. The clinical status of patients was determined six, 14, and 36 months after enrollment was closed (June 1984) by either interview and examination or telephone contact with private physicians. RESULTS: After three and a half years of follow-up, 42 patients have developed AIDS, including (1) 77% who had had thrush or symptoms, or both, (2) 80% to 88% of those who originally demonstrated marked immunologic abnormalities (skin test anergy, less than 200 T4+ cells/mm3, T4/T8 cell ratio of less than 0.5, severely impaired interferon-gamma production [less than 25 U/mL], or elevated serum beta 2 microglobulin level [greater than 3.0 mg/L], and (3) 95% of patients with HIV p24 antigenemia. However, AIDS also developed in 51% of patients who had had more apparently benign initial manifestations (lymphadenopathy alone, herpes zoster), in 41% to 54% despite normal initial results for either T4+ cell number, interferon-gamma secretion, beta 2 microglobulin, or skin testing, and in 44% of those whose sera did not contain HIV antigen. CONCLUSION: These updated results demonstrate the remarkably poor prognosis of patients with generalized lymphadenopathy or AIDS-related complex irrespective of initial clinical, immunologic, and serologic findings, and suggest that essentially all such persons may be candidates for antiviral therapy.

AIDS-Related Complex↗