1/322. A case of multiple sebaceous epithelioma: analysis of microsatellite instability.Sebaceous gland tumor is a rare disease that is a sign of muir-torre syndrome, an autosomal, dominantly inherited genodermatosis characterized by the presence of at least one sebaceous gland tumor and a minimum of one internal malignancy. Recent studies have indicated that defective dna mismatch repair occurs in muir-torre syndrome. Cutaneous lesions may occur before diagnosis of the internal cancer. We describe a 64-year-old male patient with multiple sebaceous epitheliomas with no evident internal malignancy. microsatellite instability, determined by examining dinucleotide CA repeats at the microsatellite loci, was observed in DNA from one sebaceous epithelioma but not from the other two sebaceous epitheliomas or from one basal cell epithelioma with sebaceous differentiation, suggesting that this condition is unlikely to be due to germ-line mutation of mismatch repair genes.- - - - - - - - - - ranking = 1keywords = dermatosis (Clic here for more details about this article) |
2/322. Erythrokeratoderma en cocardes.The erythrokeratodermas are a distinct but clinically variable group of rare geno-dermatoses, characterized by circumscribed erythematous and hyperkeratotic lesions. All attempts to establish a valid classification have been based on purely clinical and morphologic criteria. Erythrokeratoderma en cocardes, also known as genodermatose en cocardes or Degos' syndrome, was first described by Degos in 1947. The condition is characterized by large round plaques with concentric erythema and scaling having a target configuration, which remit and recur, in addition to scaly plaques as seen in erythrokeratoderma variabilis. A case of this rare genodermatosis is described.- - - - - - - - - - ranking = 1keywords = dermatosis (Clic here for more details about this article) |
3/322. Parry-Romberg syndrome with contralateral and ipsilateral extremity involvement.BACKGROUND: The Parry-Romberg syndrome is an acquired progressive hemifacial atrophy involving the subcutaneous tissues of the scalp and face. Involvement of the extremities is uncommon in this syndrome. OBJECTIVE: A case of contralateral and ipsilateral extremity involvement in the Parry-Romberg syndrome is reported, and the difficulties in distinguishing this syndrome from linear scleroderma en coup de sabre are reviewed. methods: A medline search for cases of Parry-Romberg syndrome with contralateral extremity involvement was performed and the cases reviewed. RESULTS: Contralateral extremity involvement in the Parry-Romberg syndrome is rare. CONCLUSION: This may be the first case reported in the English literature of Parry-Romberg syndrome with contralateral and ipsilateral extremity involvement.- - - - - - - - - - ranking = 0.19428346655667keywords = scalp (Clic here for more details about this article) |
4/322. 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 = 0.58285039967002keywords = scalp (Clic here for more details about this article) |
5/322. Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome.We report on a girl with congenital hypoplastic anaemia, "coarse" face, generalized hypertrichosis with scalp hypotrichosis, short fifth finger, hypoplastic toenails, and mental retardation. A sister of the proposita, who died at the age of 1 year, had severe congenital anaemia, hypoplastic fingernails, low birth weight, failure to thrive, and repeated upper respiratory tract infections. Based on family history, we suspect that hypoplastic anaemia and the same multiple congenital anomalies-mental retardation syndrome (MCA/MR) were also present in this sister. To the best of our knowledge, this patient represents the first report of congenital hypoplastic anaemia and such a complex MCA/MR syndrome, probably inherited as an autosomal recessive trait.- - - - - - - - - - ranking = 0.19428346655667keywords = scalp (Clic here for more details about this article) |
6/322. muir-torre syndrome: case report of a patient with concurrent jejunal and ureteral cancer and a review of the literature.BACKGROUND: muir-torre syndrome is a rare autosomal dominant genodermatosis, first described in 1967, characterized by the presence of sebaceous tumors and an internal malignancy in the absence of other predisposing factors. OBJECTIVE: Our purpose was to review and update published literature on muir-torre syndrome. methods: We describe a 66-year-old white man with a history of sebaceous tumors and newly diagnosed transitional cell cancer of the right ureter and adenocarcinoma of the jejunum. The literature on muir-torre syndrome is reviewed by means of medline search and available published reports and updated. RESULTS: Only 205 cases of muir-torre syndrome with 399 internal malignancies have been reported. The common presentation is the presence of sebaceous tumors along with a low-grade visceral malignancy. Sebaceous tumors appeared before the internal malignancy in 45 cases (22%), concurrently in 12 (6%), and after the internal malignancy in 114 (56%). In 33 (16%) of 205 patients, a temporal relationship was not reported. The total number of sebaceous gland carcinomas reported is 44; 17 of 44 were neoplasms of the meibomian gland. Keratoacanthomas have been noted in 48 (23%) of 205 patients. Gastrointestinal cancers are the most common internal malignancies (61%), followed by genitourinary (22%). CONCLUSION: The presence of sebaceous tumors warrants a search for an internal malignancy. In patients with muir-torre syndrome, regular follow-up and search for new malignancy is mandatory. Evaluation and monitoring of the family members of patients are also necessary. patients and their families should be counseled for genetic testing. Genetic analysis of the primary tumor and skin lesions should be arranged as an added research tool if possible to better understand the disease.- - - - - - - - - - ranking = 1keywords = dermatosis (Clic here for more details about this article) |
7/322. The concurrence of ring constrictions in Adams-Oliver syndrome: additional evidence for vascular disruption as common pathogenetic mechanism.We report on a girl with congenital scalp and acral reduction limb defects, consistent with the diagnosis of Adams-Oliver syndrome. The presence of constriction rings makes the limb anomalies in this case similar to those seen in the amniotic band disruption sequence. Vascular disruption--with or without secondary amniotic rupture--may be responsible for the observed anomalies. Therefore we believe that the present observation adds further evidence for the hypothesis that the Adams-Oliver syndrome is a vascular disruption sequence.- - - - - - - - - - ranking = 0.19428346655667keywords = scalp (Clic here for more details about this article) |
8/322. leopard syndrome.An 18-year-old girl with leopard syndrome is described. Clinical manifestations include lentigines, ocular hypertelorism, mental and growth retardation, deafmuteness, and several patches of hair loss on her scalp. No family history of skin lentiginosis or any other inherited condition was found.- - - - - - - - - - ranking = 0.19428346655667keywords = scalp (Clic here for more details about this article) |
9/322. Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review.The neonatal progeroid syndrome (NPS), or Wiedemann-Rautenstrauch, is a rare autosomal recessive disorder comprised of generalized lipoatrophy except for fat pads in the suprabuttock areas, hypotrichosis of the scalp hair, eyebrows, and eyelashes, relative macrocephaly, triangular face, natal teeth, and micrognathia. We report on 5 new patients who demonstrate phenotypic variability and who represent the single largest series of NPS reported to date. Two of the patients are from an African-American kindred, an ethnic occurrence not reported previously. The fact that there are 2 pairs of sibs among the 5 patients further supports that NPS is an autosomal recessive condition. This report also includes a review of the previously reported 16 patients and compares them with the 5 new patients. Abnormalities in endocrine and lipid metabolism were found in 3 of 5 patients. Skeletal findings in 2 of our patients demonstrated some new findings as well as the typical radiological abnormalities previously noted in NPS. It is apparent, based on the 21 cases, that mild to moderate mental retardation is common in NPS. Long term follow-up of patients with NPS should provide more information relative to their ultimate psychomotor development. NPS is usually lethal by 7 months; however, on rare occasions, patients have survived into the teens. Our 3 surviving patients range in age from 16-23 months. Variability in the phenotype of NPS is clear; however, the phenotype remains distinct enough to allow a secure diagnosis.- - - - - - - - - - ranking = 0.19428346655667keywords = scalp (Clic here for more details about this article) |
10/322. Knobloch syndrome involving midline scalp defect of the frontal region.We report on a 4-year-old boy with Knobloch syndrome. He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hypertelorism, and a high-arched palate. He also has a defect of the anterior midline scalp with involvement of the frontal bone as documented by a computed tomography (CT) scan. The brain was normal on CT scan and magnetic resonance imaging. We present a review of the 23 published cases with this syndrome. Our patient illustrates the importance of investigating for underlying ocular and central nervous system pathology whenever midline scalp defects are present.- - - - - - - - - - ranking = 1.16570079934keywords = scalp (Clic here for more details about this article) |
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