1/43. 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 = optic atrophy, atrophy, optic (Clic here for more details about this article) |
2/43. Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia).A diagnosis of IFAP (ichthyosis follicularis with atrichia and photophobia) syndrome was established in a 1-year-old boy with congenital hairlessness, generalized ichthyotic skin changes with follicular hyperkeratoses, and photophobia. IFAP syndrome is considered to be an X-linked recessive trait. The phenotype present in female carriers has so far not been delineated. A 2-year-old sister had atrophoderma and ichthyotic skin lesions arranged in a linear pattern and a large noncicatrical bald patch on her scalp. Similarly, the mother had linear lesions of scaling and atrophy as well as circumscribed hairless areas involving the scalp, the axillary region, and the lower legs. Sweat testing by means of iodine starch-reaction visualized hypohidrotic linear lesions corresponding to the areas of hyperkeratosis and atrophy. In both mother and daughter the lesions followed the lines of Blaschko, whereas the boy was diffusely affected. family history showed that the boy's maternal uncle who had died at age 1 year was likewise affected with the same disorder. Moreover, the maternal grandmother had reportedly bald patches on her scalp and very dry skin. This is the first report to document linear skin lesions visualizing lyonization in women heterozygous for IFAP syndrome.- - - - - - - - - - ranking = 0.11547231330266keywords = atrophy (Clic here for more details about this article) |
3/43. Lipedematous alopecia: a clinicopathologic, histologic and ultrastructural study.Lipedematous alopecia is a rare condition of unknown etiology characterized by a thick, boggy scalp with varying degrees of hair loss that occurs in adult black females, with no clearly associated medical or physiologic conditions. The fundamental pathologic finding consists of an approximate doubling in scalp thickness resulting from expansion of the subcutaneous fat layer in the absence of adipose tissue hypertrophy or hyperplasia. Observations by light and electron microscopy detailed in this report suggest that this alteration principally manifests by localized edema with disruption and degeneration of adipose tissue. Some diminution in the number of follicles as well as focal bulb atrophy is noted. Aberrant mucin deposition such as that seen in myxedema or other cutaneous mucinoses is not a feature. The histologic findings bear some resemblance to those seen in lipedema of the legs, a relatively common but infrequently diagnosed condition. We present a case of lipedematous alopecia with emphasis on histologic and ultrastructural features. The etiology is unknown.- - - - - - - - - - ranking = 0.057736156651331keywords = atrophy (Clic here for more details about this article) |
4/43. Regional choroidal atrophy and alopecia. A new syndrome.Two siblings with total regional choroidal atrophy and other manifestations of ectodermal dysplasia are presented. The mode of inheritance is uncertain, but mild macular disease in the father may represent heterozygote manifestation of a recessive condition.- - - - - - - - - - ranking = 0.28868078325665keywords = atrophy (Clic here for more details about this article) |
5/43. Lichen planopilaris.P, a 20-year-old laborer displayed initial symptoms of the disease in question when he was 10 years old. Initially he had an asymptomatic progressive loss of hair on the scalp. A couple of years later he had mild to moderate pruritis, and the appearance of slate-blue eruptions on the scalp and elsewhere on the body. This resulted in a complete loss of hair on the vault of the scalp, which led him to seek specialist opinion. skin surface examination revealed the presence of grayish-blue acuminate follicular papules, disposed singly and in groups (plaques). The pilo-sebaceous orifices were conspicuously obliterated and filled by keratin plugs. Perifollicular erythema was a predominant feature on the scalp. The lesions were present over the scalp, around the neck, chest, back, axillae, groin and legs. Shiny atrophied scalp skin depicting scarring alopecia mimicking male-type baldness was a salient feature. In addition, it was studded with conspicuous acuminate papules in its center (Fig. 1a). The known nonhairy (glabrous) skin had classic lichen planus lesions (Fig. 1b). Hemotoxylin-eosin stained microsections prepared from typical lichen planus (LP) lesions over the abdomen and those of lichen planopilaris (LPP) of the scalp were simultaneously studied. The former revealed changes in the epidermis comprising of hyperkeratosis, increase in thickness of stratum granulosum, hydropic degeneration of the basal cell layer and band-like lympho-histiocytic infiltrate pressing against and invading the epidermis, while the latter revealed uniform atrophy of the epidermis and vacuolization of basal cells. The hair follicles were dilated and were filled with keratin plugs. In addition to fibrosis of the dermis, pigment laden microphages and lympho-histiocytic infiltrate was prominent. The follicles and the sebaceous glands were absent. However, arrectores pilorum and sweat glands were preserved (Fig. 2a,b).- - - - - - - - - - ranking = 0.057736156651331keywords = atrophy (Clic here for more details about this article) |
6/43. Bilateral linear scleroderma "en coup de sabre" associated with facial atrophy and neurological complications.BACKGROUND: Linear scleroderma "en coup de sabre" (LSCS) usually affects one side of the face and head in the frontoparietal area with band-like indurated skin lesions. The disease may be associated with facial hemiatrophy. Various ophthalmological and neurological abnormalities have been observed in patients with LSCS. We describe an unusual case of LSC. CASE PRESENTATION: A 23 year old woman presented bilateral LSCS and facial atrophy. The patient had epileptic seizures as well as oculomotor and facial nerve palsy on the left side which also had pronounced skin involvement. Clinical features of different stages of the disease are presented. CONCLUSIONS: The findings of the presented patient with bilateral LSCS and facial atrophy provide further evidence for a neurological etiology of the disease and may also indicate that classic progressive facial hemiatrophy (Parry-Romberg syndrome) and LSCS actually represent different spectra of the same disease.- - - - - - - - - - ranking = 0.46188925321065keywords = atrophy (Clic here for more details about this article) |
7/43. GAPO syndrome: first patients with partially empty sella.GAPO refers to a syndrome of growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). We present for the first time children (two brothers) with GAPO syndrome associated with partially empty sella. We suggest that radiographic evaluation of the sella turcica and endocrinological follow-up are necessary in children with GAPO syndrome.- - - - - - - - - - ranking = 0.88452768669734keywords = optic atrophy, atrophy, optic (Clic here for more details about this article) |
8/43. Delleman (oculocerebrocutaneous) syndrome: few variations in a classical case.Delleman syndrome involves a group of congenital abnormalities affecting the eye, skin and central nervous system. It is a rare and sporadic disorder. We report on a 4-year-old male child who presented to us with oculocerebrocutaneous syndrome featuring: focal alopecia on the left side of the scalp, left periorbital skin appendages, a left-sided orbital dermoid, a large left-sided intracranial cyst,optic atrophy. About 35 such cases have been reported in the literature so far. To our knowledge optic atrophy associated with oculocerebrocutaneous syndrome has not been reported previously. Our patient had only a single seizure and his IQ was normal.- - - - - - - - - - ranking = 1.7690553733947keywords = optic atrophy, atrophy, optic (Clic here for more details about this article) |
9/43. Lichen planopilaris: report of 30 cases and review of the literature.BACKGROUND: Lichen planopilaris (LPP) affects primarily the scalp, resulting in scaling, atrophy, and alopecia with scarring. The purpose of our study was to obtain original data on LPP and to evaluate the efficacy of topical therapy in comparison with systemic therapies. methods: We examined 30 patients affected by LPP between 1996 and 2001, performing clinical, laboratory, histopathologic and direct immunofluorescence examinations. Twenty-one of the patients (70%) were women and nine (30%) were men. The average age at presentation was 51.5 years. The average duration of the disease was 13 months at the time of the diagnosis. All patients received topical steroids for a total of 12 weeks. RESULTS: Resolution of the inflammatory process and blocking of the cicatricial progression were observed in 66% of cases, a mild reduction of fibrosis and cicatrization in 20% of patients, and no response in 13%. CONCLUSIONS: We concluded that topical therapy may be a valid alternative to systemic therapies, especially in patients with lesions in the early phase.- - - - - - - - - - ranking = 0.057736156651331keywords = atrophy (Clic here for more details about this article) |
10/43. Case study: fibrosing alopecia in a pattern distribution localized on alopecia androgenetica areas and unaffected scalp.A 54-year-old man with a 24-year history of androgenetic alopecia was referred to the Department of Dermatological Sciences with follicular inflammatory lesions leading to scleroatrophy in the vertex region (Figure 1) of 1-year duration.These lesions appeared a year ago. There was no previous history of this condition. On examination, the patient showed confluent infiltrative follicular lesions on the frontoparietal and occipital scalp (Figure 2). Some lesions evolved into erosions that developed in ivory white scleroatrophy within weeks. These lesions were localized both in and outside of are as affected by alopecia androgenetica and were associated with mild pruritus. Histopathologic examination, performed on an early lesion of the vertex, documented a mild thinning of follicular epithelium associated with an intense lymphohistiocytic perifollicular infiltrate. The damage of the basal cell layer was limited to the follicle, while epidermis was intact.In particular, follicular keratinocytes under the isthmus showed a very intense degeneration exactly where the infiltrate was the most prominent. The damage of the hair sheath was under the isthmus and involved the lower portions of the follicles (including the hair bulbs). The inflammatory infiltrate was exclusively represented by perifollicular lymphohistiocytes. Finally, a connective fibrotic shell with numerous fibroblasts formed a sheath around the atrophic follicle (Figure 3).Results of laboratory investigations (including complete blood cell counts, basal thyroid-stimulating hormone, c-reactive protein, serum ferritin levels, B and C hepatitis markers, antinuclear antibodies, and cultural examinations) were negative.We diagnosed the patient with fibrosing alopecia in a pattern distribution.- - - - - - - - - - ranking = 0.11547231330266keywords = atrophy (Clic here for more details about this article) |
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