1/34. Ophthalmic findings in GAPO syndrome.BACKGROUND: The main manifestations of GAPO syndrome are growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). CASES: This syndrome has been described in 21 patients from 16 different families. Four cases are from turkey and have been presented by Sayli and Gul. The purpose of our study is to document the cases from turkey and discuss the ophthalmological and neuro-ophthalmolgical findings of these and other reported GAPO cases. OBSERVATIONS: All patients in the literature and our 4 cases have severe growth retardation with delayed bone age in infancy, characteristic facial appearance (high and bossed forehead, midface hypoplasia), alopecia or severe hypotrichosis, and pseudoanodontia. optic atrophy was present in 1 of our cases and in 5 previous cases. glaucoma was present in 5 cases, including 2 of ours. Buphthalmia and keratopathy secondary to glaucoma were also observed. White eyelashes, seen only in our cases, may be a sign of "early senility." CONCLUSIONS: optic atrophy is not a constant finding in GAPO syndrome. glaucoma may accompany the ocular findings. This syndrome has been attributed to either ectodermal dysplasia or the accumulation of extracellular connective tissue matrix, due to an enzyme deficiency involved in its metabolism. Current studies show that an elastin defect and secondary changes in collagen may be important in the pathogenesis of the disease.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/34. Effect of IVIG on the hair regrowth in a common variable immune deficiency patient with alopecia universalis.Common variable immune deficiency (CVID) is associated with a variety of autoimmune diseases. alopecia universalis (AU), believed to have an autoimmune basis, has been found in 1.6% of patients with CVID. Intravenous immunoglobulin (IVIG) therapy is used in various immunodeficiency disorders including CVID, and benefit has been shown in the therapy of autoimmune diseases. We report a patient with CVID and AU treated with IVIG who experienced significant hair regrowth. An 8-year-old girl with CVID and AU was treated with IVIG 400 mg/kg every 4 weeks. Since her second dose of IVIG, regrowth of eyelashes, eyebrows, body and scalp hair was observed in this patient. At present, about 1 year treat-meant of IVIG, significant hair regrowth is noted with 5-6 cm of scalp hair. We believe that IVIG may be beneficial in the treatment of AU, at least in patients with CVID.- - - - - - - - - - ranking = 6keywords = deficiency (Clic here for more details about this article) |
3/34. Systemic lupus erythematosus with C1q deficiency.We report a case of systemic lupus erythematosus associated with C1q deficiency. Our patient presented at the age of 6 years with cutaneous lupus. She later developed Raynaud's phenomenon, non-scarring alopecia, oral ulceration and grand mal seizures due to cerebral vasculitis. complement c3 and C4 levels were consistently normal during flares of her lupus and haemolytic activity of her complement was absent, suggesting a deficiency of an early component of the complement cascade. No C1q could be detected.- - - - - - - - - - ranking = 6keywords = deficiency (Clic here for more details about this article) |
4/34. Gomez-Lopez-Hernandez syndrome: expansion of the phenotype.Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia) is a condition that includes abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). Seven patients with this condition have been documented since 1979. We now report a male with Gomez-Lopez-Hernandez syndrome who, at the age of 19 years, is the oldest patient identified to date. He has been followed since birth, allowing us to report on the progression of his physical findings and psychiatric problems including hyperactivity, depression, self-injurious behavior and bipolar disorder. In addition, he has short stature and growth hormone deficiency.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
5/34. Human equivalent of the mouse Nude/SCID phenotype: long-term evaluation of immunologic reconstitution after bone marrow transplantation.Human Nude/SCID (severe combined immunodeficiency) is the first severe combined immunodeficiency caused by mutation of the winged-helix-nude (WHN) gene, which is expressed in the thymus but not in the hematopoietic lineage. The disease is characterized by a T-cell defect, congenital alopecia, and nail dystrophy. A Nude/SCID patient who underwent bone marrow transplantation from the human leukocyte antigen-identical heterozygote brother was studied to investigate, in this unique model, the role of the thymus in immunologic reconstitution. Despite an increase in CD3( ), CD4( ), and CD8( ) cells, CD4( ) CD45 RA naive lymphocytes were not regenerated. Conversely, naive CD8( ) cells were normal. After an initial recovery, lymphocyte proliferation to mitogens progressively declined compared with controls and genotypically identical donor cells grown in the WHN( /-) environment. Analysis of the T-cell receptor (TCR) repertoire of CD4( ) cells revealed that only 3 of 18 Vbeta families had an altered CDR3 heterogeneity length profile. Conversely, CD8( ) lymphocytes showed an abnormal distribution in most Vbeta families. These data indicate that the thymus is differentially required in the reconstitution of CD4( ) and CD8( ) naive subsets and in the maintenance of their TCR repertoire complexity. Taken together, these findings suggest that bone marrow transplantation is ineffective in the long-term cure of this form of SCID.- - - - - - - - - - ranking = 2keywords = deficiency (Clic here for more details about this article) |
6/34. common variable immunodeficiency treated with a recombinant human IgG, tumour necrosis factor-alpha receptor fusion protein.common variable immunodeficiency (CVI) is characterized by a failure in B-cell differentiation and impaired immunoglobulin secretion, but with a variable clinical presentation, including the development of sarcoidal granulomas and autoimmune diseases, as well as an increased incidence of malignancies. We present a 21-year-old white man who carried a diagnosis of juvenile rheumatoid arthritis and presented 6 years later with scarring alopecia showing sarcoidal granulomas. Further work confirmed the diagnosis of CVI, and with increasing systemic symptoms, it was elected to treat the patient with a tumour necrosis factor (TNF)-alpha antagonist, a TNF-alpha receptor IgG1 fusion protein. The patient showed improvement in his systemic symptoms and some hair regrowth after 3 months of therapy, and continued improvement in his systemic disease with only mild scalp hair thinning in the areas of prior involvement after almost 1 year of therapy. CVI and sarcoid may have overlapping clinical and immunological findings. Previous therapies for CVI, including intravenous immunoglobulin, have not altered the mortality of the disease. TNF-alpha is a primary cytokine and is elevated in CVI, and specific inhibition of TNF-alpha in this patient was effective in moderating his disease, including his skin disease.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
7/34. Coexistence of common variable immunodeficiency and autoimmune polyglandular syndrome type 2.A six year-old boy with common variable immunodeficiency developed insulin dependent diabetes mellitus, autoimmune thyroiditis, and total alopecia leading to the diagnosis of autoimmune polyglandular syndrome type 2. Previously unreported co-occurence of these two entities may be explained by strong autoimmunity and HLA association of both conditions.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
8/34. An endocrinopathy characterized by dysfunction of the pituitary-adrenal axis and alopecia universalis: supporting the entity of a triple H syndrome.We demonstrate the rare disorder of triple H syndrome in a 25-year-old man. He was pointed out as having short stature, at -5.9 s.d., and diagnosed as GH deficient at 6 years old. Approximately a year ago, he noticed systematic hair loss. He lost body weight by 7 kg during the last half year. He was admitted to Jichi Medical School Hospital because of unconsciousness. Physical findings showed disturbance of consciousness with japan Coma Scale I-3. He had emaciation and alopecia universalis. Laboratory findings showed plasma glucose was as low as 1.11 mmol/l. GH and ACTH deficiency with hypoadrenocorticism were clarified. His intelligence was in the low normal range with a WAIS IQ of 70, and anterograde amnesia was suggested in the presence of a little, but not significant, morphological change in the hippocampus on a magnetic resonance imaging scan. Replacement by a physiological dose of hydrocortisone normalized plasma glucose, and restored body weight and growth of hair during the 7 month therapeutic period. The present finding strongly supports a clinical entity of triple H syndrome, including ACTH deficiency, alopecia universalis and anterograde amnesia, and that there may be some variation of the triad among the subjects.- - - - - - - - - - ranking = 2keywords = deficiency (Clic here for more details about this article) |
9/34. A rare case of autoimmune polyglandular syndrome type 3.A 57-year-old female was admitted to our hospital suffering from a lower lip tumor, small ulcers in the arms and alopecia of the head. Because she had type 2 diabetes mellitus (DM) for the past 3 years, she was referred to our department of internal medicine for its treatment. Her endogenous insulin secretion was much decreased despite the short duration of diabetes. glutamic acid decarboxylase antibodies (GADA) and islet cell antibodies (ICA) were both positive. Therefore, she was diagnosed as having slowly progressive form of type 1 DM. Type 1 DM is sometimes complicated with autoimmune disorders. After further examinations, she was diagnosed as having sjogren's syndrome, Graves' disease and autoimmune neutropenia (AIN). According to the histological examinations of the lip tumor and peripheral site of the skin ulcer, the patient was diagnosed as having carcinoma spinocellulare and chronic cutaneous lupus erythematosus. The examination also showed positive anti-intrinsic factor and anti-ribonucleoprotein (RNP) antibodies. She is a rare case of an autoimmune polyglandullar syndrome (APS) type 3 simultaneously manifesting these seven diseases with multiple autoimmune antibodies.- - - - - - - - - - ranking = 52.237573975452keywords = carboxylase (Clic here for more details about this article) |
10/34. Clinical response of alopecia, trichorrhexis nodosa, and dry, scaly skin to zinc supplementation.Two unrelated patients had dry brittle hair, alopecia, trichorrhexis nodosa, dry scaly skin, pigment dyschromia, short stature, and neurosecretory growth hormone deficiency. By means of the zinc tolerance test, patient 1 was shown to have zinc deficiency, whereas no clear zinc deficiency could be demonstrated in patient 2. In both patients, hair and the skin abnormalities responded to oral zinc therapy.- - - - - - - - - - ranking = 3keywords = deficiency (Clic here for more details about this article) |
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