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101. Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.

of the mouth (cheek pads). Scalp hair is sparse in AMS only, but sparse eyebrows and eyelashes occur in both entities, and general hypertrichosis occurs in BSS. We compare these characteristics with those in Setleis syndrome which can also be caused by TWIST2 mutations. The resemblance between the three syndromes is considerable, and likely differences seem larger than they actually are due to insufficiently complete evaluation for all characteristics of the three entities in the past. It is likely

2017 American journal of medical genetics. Part A

102. Systematic review of low-level laser therapy for adult androgenic alopecia.

Systematic review of low-level laser therapy for adult androgenic alopecia. Alopecia is a common disorder affecting over half of the world's population. Within this condition, androgenic alopecia (AA) is the most common type, affecting 50% of males over 40 and 75% of females over 65. Anecdotal paradoxical hypertrichosis noted during laser epilation has generated interest in the possibility of using laser to stimulate hair growth. In this study, we aimed to critically appraise the application

2017 Journal of cosmetic and laser therapy : official publication of the European Society for Laser Dermatology

103. Efficacy Evaluation of the Activity of a Cosmetic Product (Topical Use) on Hair Regrowth vs Placebo

, 2018 Sponsor: Derming SRL Information provided by (Responsible Party): Adele Sparavigna, Derming SRL Study Details Study Description Go to Brief Summary: Aim of the study is to evaluate clinically and by non-invasive instrumental evaluations the activity on hair regrowth of a topical cosmetic product versus placebo (comparison within subjects) Condition or disease Intervention/treatment Phase Hypertrichosis Other: Actapil Corpo Spray (SHEDIR PHARMA Srl - Italy) Other: Placebo Not Applicable Study (...) with hypertrichosis agreeing not to perform epilation or scrub/peeling treatment on the test area (legs) during the week preceding the inclusion good general state of health Exclusion Criteria: pregnancy lactation subjects whose insufficient adhesion to the study protocol is foreseeable sensitive skin oral contraceptive therapy started less than 1 year presence of varicose or capillary veins of surface hormonal therapies able to influence hair growth. presence of cutaneous disease on the tested area, as lesions

2017 Clinical Trials

104. A case of Donohue syndrome “Leprechaunism” with a novel mutation in the insulin receptor gene (PubMed)

with lack of subcutaneous fat tissue, bilateral simian creases, hypertrichosis, especially on her face, gingival hypertrophy, cliteromegaly, and prominent nipples. Her laboratory tests revealed hyperandrogenism, postprandial hyperglycemia and preprandial hypoglycemia, and very high concurrent insulin levels. She was diagnosed as having Donohue syndrome. Metformin and continuous nasogastric feeding were administrated. During follow-up, relatively good glycemic control was obtained. However, severe

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2017 Turkish Archives of Pediatrics/Türk Pediatri Arşivi

105. Cyclosporin A Therapy in Childhood Nephrotic Syndrome

efficacious. Cyclosporin A therapy is well recognised regarding its steroid sparing effect in steroid dependant patients and is responsible for maintaining remission in more than 75% of patients with Steroid dependent nephrotic syndrome even after discontinuation of steroids Furthermore, it has been shown to be effective in inducing remission in steroid resistant nephrotic syndrome. However ,Cyclosporin A is associated with a plethora of side effects such as hypertension, nephrotoxicity hypertrichosis (...) of efficacy of cyclosporin A therapy [ Time Frame: one year ] measurment of serum albumin ,serum cholesterol and urinary protien excretion evaluation of side effects of cyclosporin A [ Time Frame: one year ] serial observation of common side effects of cyclosporin A as hypertension, nephrotoxicity hypertrichosis, gum hyperplasia, gastrointestinal disturbances and tremor. Eligibility Criteria Go to Information from the National Library of Medicine Choosing to participate in a study is an important personal

2017 Clinical Trials

106. Misuse of topical corticosteroids on facial skin. A study of 200 patients. (PubMed)

, dyspigmentation, hypertrichosis, perioral dermatitis and tinea incognito. A total of 89 (44.5%) patients fulfilled the criteria of "topical steroid dependent face". These patients reported erythema, burning and itching on stopping the application of topical corticosteroids.In most cases the use prolonged use of topical corticosteroids on facial skin was recommended by non-professional persons. The adverse events ranged from transient to permanent. The results of this study underline the indispensable role

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2017 Journal of dermatological case reports

107. Cantú Syndrome Associated with Ovarian Agenesis (PubMed)

Cantú Syndrome Associated with Ovarian Agenesis Cantú syndrome is a very rare autosomal dominant disorder characterized by generalized congenital hypertrichosis, neonatal macrosomia, coarse face, cardiomegaly, and occasionally, skeletal abnormalities. The syndrome has been attributed to mutated ABCC9 or KCNJ8 genes. We present a 4-year-old girl with developmental delay, distinctive coarse facial features, and generalized hypertrichosis apparent since birth. The investigation revealed absent

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2017 Molecular syndromology

108. Barber‐say syndrome: a confirmed case of TWIST2 gene mutation (PubMed)

Barber‐say syndrome: a confirmed case of TWIST2 gene mutation Barber-Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. TWIST2 gene mutation previously described in this syndrome was identified in our patient. Genetic testing is recommended in patients presenting with these phenotypic abnormalities, along with their parents, to establish de novo or inherited mutations.

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2017 Clinical Case Reports

109. Clinical utility gene card for: Cantú syndrome (PubMed)

England Eur J Hum Genet 9302235 1018-4813 0 ABCC9 protein, human 0 KCNJ18 protein, human 0 Potassium Channels, Inwardly Rectifying 0 Sulfonylurea Receptors Cantu syndrome IM Cardiomegaly diagnosis genetics Genetic Testing methods standards Humans Hypertrichosis diagnosis genetics Mutation Osteochondrodysplasias diagnosis genetics Potassium Channels, Inwardly Rectifying genetics Sulfonylurea Receptors genetics 2016 07 03 2016 10 25 2016 11 22 2017 1 5 6 0 2018 3 27 6 0 2017 1 5 6 0 ppublish 28051078

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2017 European Journal of Human Genetics

110. Neonatal hemolytic anemia does not always indicate thalassemia: a case report (PubMed)

Neonatal hemolytic anemia does not always indicate thalassemia: a case report Congenital erythropoietic porphyria is a rare autosomal recessive disorder that affects heme-porphyrin synthesis. This disorder is due to the genetic defect of uroporphyrinogen III cosynthase. This defect results in the accumulation of high amounts of uroporphyrin I in all tissues, leading to clinical manifestations ranging from mild to severe chronic damage of the skin, cartilage and bone. Hypertrichosis

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2017 BMC research notes

111. POEMS syndrome presentation with progressive weakness in upper and lower limbs: A case report (PubMed)

cell disorder (typicallyλ-restricted in cases of POEMS syndrome); sclerotic lesions on the spine and pelvis; organomegaly, including hepatomegaly, splenomegaly and lymphadenopathy; edema; pleural effusion; adrenal, thyroidal, pituitary, gonadal and pancreatic endocrinopathy; skin changes, including hyperpigmentation, dry skin and hypertrichosis; thrombocytosis; pulmonary hypertension; low vitamin B12 and weight loss. Following the diagnosis of POEMS syndrome, the patient was treated only with pain

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2017 Oncology letters

112. Treatment of chronic telogen effluvium with oral minoxidil: A retrospective study (PubMed)

with continued treatment.  One patient developed ankle oedema.  Thirteen women developed facial hypertrichosis.  For 6 patients this was mild and did not require treatment; 4 had waxing of their upper lip or forehead; 3 had laser hair removal.  No patients developed any haematological abnormality.  All 36 women completed 12 months of treatment. Conclusions: Once daily oral minoxidil appears to reduce hair shedding in CTE.  Placebo controlled studies are recommended to further assess this response.

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2017 F1000Research

113. Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel (PubMed)

Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of the ATP-sensitive potassium channel Cantu syndrome (CS) is a condition characterized by a range of anatomical defects, including cardiomegaly, hyperflexibility of the joints, hypertrichosis, and craniofacial dysmorphology. CS is associated with multiple missense mutations in the genes encoding the regulatory sulfonylurea receptor 2 (SUR2) subunits of the ATP-sensitive K+ (KATP

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2017 The Journal of biological chemistry

114. Higher prevalence of clinical cardiovascular comorbidities in postmenopausal women with self-reported premenopausal hirsutism and/or oligo-amenorrhea (PubMed)

, chronic obstructive pulmonary disease, and osteoarthritis were significantly higher in postmenopausal women who had experienced hirsutism and/or oligomenorrhea (p < 0.03). Limitations of the study came from the absence of a clear differentiation between hirsutism and hypertrichosis. According our results, the presence of hirsutism and oligo-amenorrhea during the female reproductive period may indicate susceptibility to important diseases at old age.

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2017 Dermato-endocrinology

115. Clinical genetic evaluation in identifying the etiology of the autism spectrum disorders: 2013 guideline revisions

dehydrogenase deficiency Sulfation defects ASD, autism spectrum disorder. Table 3 Clinical symptoms that prompt metabolic or mitochondrial testing in persons with ASDs Acid/base or electrolyte disturbances Anemia with an elevated mean corpuscular volume Cyclic vomiting Dermatologic changes: alopecia, hypertrichosis, and pigmented skin eruptions Developmental regression associated with illness or fever Gastrointestinal dysfunction, gastroparesis Hypotonia/dystonia Lactic acidosis Lethargy Multisystem

2013 American College of Medical Genetics and Genomics

117. Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene (PubMed)

Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene Coffin-Siris syndrome (CSS) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum. Recently, it was shown that mutations in the ARID1B gene are the main cause of CSS, accounting for 76% of identified

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2016 Intractable & rare diseases research

118. Fluoxetine-Induced Hypoglycaemia in a Patient with Congenital Hyperinsulinism on Lanreotide Therapy (PubMed)

Fluoxetine-Induced Hypoglycaemia in a Patient with Congenital Hyperinsulinism on Lanreotide Therapy Antidepressant drugs are reported to cause alterations in blood glucose homeostasis in adults with diabetes mellitus. We report a patient with persistent congenital hyperinsulinism (CHI) who developed recurrent hypoglycaemia following fluoxetine therapy. This 15-year-old girl was initially managed with diazoxide therapy. She developed troublesome hypertrichosis, which affected her quality of life

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2016 Journal of clinical research in pediatric endocrinology

119. Sirolimus therapy in a child with partially diazoxide-responsive hyperinsulinaemic hypoglycaemia (PubMed)

children with severe diffuse HH, thus obviating the need for pancreatectomy. We report a girl with HH, with a novel heterozygous ABCC8 gene missense mutation (c.4154A>T/ p.Lys1385Thr), who was initially responsive to diazoxide therapy. After 11 months of diazoxide treatment, she developed intermittent, unpredictable breakthrough episodes of hypoglycaemia, in addition to generalized hypertrichosis and weight gain from enforced feeding to avoid hypoglycaemia. Sirolimus, which was commenced at 15 months (...) of age, gradually replaced diazoxide, with significant reduction and abolition of hypoglycaemia. The hypertrichosis resolved and there was less weight gain given the reduced need for enforced feeding. Sirolimus, which was administered over the next 15 months, was well tolerated with no significant side effects and was gradually weaned off. After stopping sirolimus, apart from hypoglycaemia developing during an episode of severe viral gastroenteritis, the capillary glucose concentrations were

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2016 Endocrinology, diabetes & metabolism case reports

120. A Study to Assess the Safety and Efficacy of a Tacrolimus Based Immunosuppressive Regimen in Stable Kidney Transplant Recipients Converted From Cyclosporine Based Immunosuppressive Regimen

and older (Adult, Older Adult) Sexes Eligible for Study: All Accepts Healthy Volunteers: No Criteria Inclusion Criteria: Patients received a kidney transplant at least 12 months before enrollment. Patients whose dosage of previous immunosuppressants has not been changed and remained for at least 4 weeks before enrollment, and blood trough level of cyclosporine is 100 to 200 ng/mL. Patients who have the side effects (hypertension, hyperlipidemia, gingival hyperplasia and hypertrichosis/hirsutism) during

2016 Clinical Trials

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