1/15. 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 = physical (Clic here for more details about this article) |
2/15. thallium and arsenic poisoning in a small midwestern town.thallium and arsenic have been used as a means of criminal poisoning. Although both manifest characteristically with peripheral neuropathies, thallium is associated with alopecia and arsenic with gastrointestinal symptoms. We describe the symptoms, physical findings, diagnostic test results, and outcomes in a group of men poisoned with thallium and arsenic. Seven patients had evidence of elevated thallium levels, and 2 patients had elevated arsenic and thallium levels. The most commonly reported symptoms included myalgias, arthralgias, paresthesias, and dysesthesias. Five patients developed alopecia. All patients with symptoms and peripheral neuropathies had characteristic blackening of their hair roots. Initially treated with dimercaptosuccinic acid, patients were switched to multiple-dose activated charcoal after testing revealed thallium poisoning. By 6 months, all patients' symptoms and peripheral neuropathies improved, but 5 patients had ongoing psychiatric problems. thallium remains a means of criminal poisoning and should be considered in any patient with a rapidly progressing peripheral neuropathy with or without alopecia.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/15. Ultrastructural study of acquired pili torti-like hair defects accompanying pseudopelade.Acquired structural hair defects are caused by various physical and chemical manipulations. Plucked hairs and hair follicle biopsy specimens of pili torti-like hairs that arose from pseudopelade scalp were studied. In scanning electron microscopy, the hair shafts had a segmental pili torti-like appearance, accompanied by oblique or longitudinal grooves and ridges. In light microscopy, the hair follicles showed an asymmetric hair bulb and inner root sheath, and a shortened keratogenous zone within sclerosing fibrous connective tissue. In transmission electron microscopy, the numbers and thickness of the hair cuticle cells were different on the opposite sides of the hair shaft. The hair cuticle was irregularly shaped and formed asymmetric waves. The tonofilaments in the hair cortex ran almost parallel to the hair axis. From these findings, it was clear that the grooves and ridges were produced by the deformed hair cuticle and cortex, whose shapes were modulated by the asymmetric inner root sheath. This asymmetry most likely resulted from a dysfunctional dermal papilla, which was affected by fibrosis. The pili torti-like appearance appeared to be caused by the grooves and ridges that ran obliquely on the hair shaft surface.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/15. Mild cutaneous manifestation in two young women with extraordinary hyperandrogenemia.hyperandrogenism with hyperandrogenemia should be considered in those with severe acne of sudden onset or conspicuous male-pattern baldness with hairline recession, although the majority of female patients with acne or androgenetic alopecia possess no endocrine disorder. Herein we describe on the contrary 2 young women with primary amenorrhea displaying prominent hyperandrogenemia but subtle cutaneous manifestation. The first one presenting vertical alopecia had an elevated level of serum dehydroepiandrosterone sulfate (>800 microg/dl) and was suspected to be a case of late-onset, non-classical adrenal hyperplasia. The second case with mild acne had a soaring serum level of total testosterone >9,000 ng/dl derived from an androgen-secreting adrenal adenoma overexpressing steroidogenic acute regulatory protein, P450 side-chain cleavage enzyme and aromatase. A careful patient history and a complete physical examination are mandatory in each individual female case with acne or alopecia. The possibility of adrenal tumor should be explored in patients with escalated circulating testosterone.- - - - - - - - - - ranking = 6.1650505396379keywords = physical examination, physical (Clic here for more details about this article) |
5/15. Atypical fibroxanthoma on a bald scalp.We present the clinical, histopathological and immunohistochemical findings of an atypical fibroxanthoma (AFX) on the bald scalp of an 81-year-old French man who had worked at a private high school in japan as a janitor for over 40 years. The patient had a history of basal cell carcinoma on the nape, and chronic solar radiation seemed to be a predisposing factor in the pathogenesis of this association. This case showed the typical clinical and histopathological characteristics of AFX, and the immunohistochemical results suggested differentiation of histiocytes and myofibroblasts. The AFX was completely resected, and the patient has not had tumor recurrence or metastasis for over four postoperative years. This case therefore provides further support to the theory that AFX displays a clinically benign course, even though it is essentially a malignant tumor histologically located in the dermis. Therefore, we must excise AFX completely with great care and perform regular physical examinations for several years after operation.- - - - - - - - - - ranking = 6.1650505396379keywords = physical examination, physical (Clic here for more details about this article) |
6/15. A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31.Congenital alopecia may occur either alone or in association with ectodermal and other abnormalities. On the bases of such associations, several different syndromes featuring congenital alopecia can be distinguished. Alopecia with mental retardation syndrome (APMR) is a rare autosomal recessive disorder, clinically characterized by total or partial hair loss and mental retardation. In the present study, a five-generation Pakistani family with multiple affected individuals with APMR was ascertained. patients in this family exhibited typical features of APMR syndrome. The disease locus was mapped to chromosome 3q26.2-q26.31 by carrying out a genome scan followed by fine mapping. A maximum two-point logarithm of odds (LOD) score of 2.93 at theta=0.0 was obtained at markers D3S3053 and D3S2309. Multipoint linkage analysis resulted in a maximum lod score of 4.57 with several markers, which supports the linkage. The disease locus was flanked by markers D3S1564 and D3S2427, which corresponds to 9.6-cM region according to the Rutgers combined linkage-physical map of the human genome (build 35) and contains 5.6 Mb. The linkage interval of the APMR locus identified here does not overlap with the one described previously; therefore, this locus has been designated as APMR2.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/15. An adult case of psychogenic alopecia universalis.A 39-year-old male with psychogenic alopecia universalis is reported to be a rare adult case. There are two characteristic features which are the reactive depressive state and hair loss on the head, eyebrows, axilla and genital organ. Discussions on the psychogenesis of these findings are as follows: The first is that the psychic escape from social life may be represented as the hair loss. And the second is that the depressive and anxious states as a result of his suffering from the initial alopecia areata which brought him changes in the physical image exaggerate the skin findings which lead to alopecia universalis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/15. Alopecia mucinosa. Report of a case with diffuse alopecia and normal-appearing scalp skin.A 69-year-old man had reversible generalized thinning of the scalp hair and normal-appearing scalp skin that proved to be secondary to follicular mucinosis. This case illustrates that when mild degrees of follicular degeneration and inflammation occur in this disorder, physical findings other than alopecia may be absent. In rare instances, follicular mucinosis can occur as a chronic diffuse noncicatricial alopecia.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/15. Ring chromosome 13 in a child with minor dysmorphic features. Irregular phenotypic expression of ring 13 syndrome.A patient with ring chromosome 13 had some physical and stigmata that to our knowledge have not been reported in previous articles. These include alopecia, scattered pigmentation, trigonocephaly, and telecanthic fold. This case reemphasizes how mitotic instability can produce clinical features during the critical period of organogenesis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/15. Congenital generalized follicular hamartoma associated with alopecia and cystic fibrosis in three siblings.BACKGROUND: Generalized follicular hamartoma is a rare condition that has been described in association with alopecia, myasthenia gravis, and circulating autoantibodies. To date, all reported cases have appeared in female individuals. We report a kindred in which three siblings were affected by this condition in association with alopecia and cystic fibrosis. OBSERVATIONS: Three children of two consanguineous patients were affected by cystic fibrosis. They also had the same phenotype characterized by senilized facies, partial alopecia, and hypohidrosis, severe retardation of physical growth, and hyperelasticity of the skin. In all three children, skin biopsy specimens revealed the presence of basaloid proliferations at the level of the hair follicles that could not be demonstrated in their healthy parents. myasthenia gravis did not appear during the clinical course of our patients, and circulating autoantibodies were not detected. All three patients died during childhood due to complications of cystic fibrosis. CONCLUSIONS: Generalized follicular hamartoma is a rare condition previously reported in association with alopecia, myasthenia gravis, and/or circulating autoantibodies (antinuclear and antiacetylcholine receptor antibodies). These are the first congenital cases of generalized follicular hamartoma described, and it is also the first time that an association with cystic fibrosis is reported. The striking association of generalized follicular hamartoma with cystic fibrosis in these three siblings suggests that there may be a genetic linkage between the two conditions.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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