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141. Hirsutism

, methyldopa, and sodium valproate). Non-androgen-dependent hair growth (hypertrichosis) can occur with drugs such as minoxidil, ciclosporin, diazoxide, high-dose hydrocortisone, and phenytoin [ ; ]. In menopausal women, a reduction in ovarian estradiol production with relatively stable levels of testosterone production can lead to an increase in hair growth. In some women, increasing concentrations of luteinizing hormone lead to stromal hyperplasia, high testosterone levels, and severe hirsutism (...) (hypertrichosis) can occur with drugs such as minoxidil, ciclosporin, phenytoin, and diazoxide [ ]. No investigations for women with mild hirsutism and no other signs of PCOS or other underlying conditions This recommendation is based on the Endocrine Society clinical practice guideline Evaluation and Treatment of Hirsutism in Premenopausal Women [ ]. Based on very low-quality evidence, the Endocrine Society suggests against investigations in women with isolated mild hirsutism because the likelihood

2014 NICE Clinical Knowledge Summaries

144. How Do You Advise the Balding Patient?

loss of newly acquired and thickened hair, making minoxidil application a lifelong commitment. Side-effects have been minor; the most common is hypertrichosis in unwanted areas, a special concern for women that usually precludes their acceptance of the 5% solution. Minoxidil remains the only FDA-approved drug for AGA in women, though it carries a category C status for pregnancy; a few case reports have suggested that birth defects are possible.28-30 Finasteride (Propecia, Proscar) is a pill (...) versus 2% topical minoxidil and placebo in the treatment of androgenetic alopecia in men. J Am Acad Dermatol. 2002;47(3):377-385. 28. Kaler SG, Patrinos ME, Lambert GH, Myers TF, Karlman R, Anderson CL. Hypertrichosis and congenital anomalies associated with maternal use of minoxidil. Pediatrics. 1987;79(3):434-436. 29. Rosa FW, Idanpaan-Heikkila J, Asanti R. Fetal minoxidil exposure. Pediatrics. 1987;80(1):120. 30. Smorlesi C, Caldarella A, Caramelli L, Di Lollo S, Moroni F. Topically applied

2010 Clinical Correlations

145. Dermoscopic Findings of Scalp Aplasia Cutis Congenita (PubMed)

and a distinct collar hypertrichosis. We report 2 cases of alopecia presenting from birth. At dermoscopy, the absence of follicular openings and the increase in the caliber of vessels led us to establish the diagnosis of ACC.

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2016 Skin appendage disorders

146. Evaluate the Clinical Effectiveness of RegenKit Platelet-rich Plasma (PRP) in Androgenetic Alopecia Treatment

intralesional PRP injections for patients with androgenetic alopecia (AGA). Androgenetic alopecia is the most common form of hair loss world-wide. Although there are currently numerous treatment options for this indication including minoxidil, 5-alpha reductase inhibitors and follicular unit transplant, many of the medical treatment options have undesirable side effects, particularly in women of child bearing age. These well-documented adverse reactions include impotency, hypertrichosis, and birth defects

2015 Clinical Trials

147. Polycystic ovary syndrome

-acanthosis nigricans (HAIRAN) syndrome. High-dose exogenous androgens. Drug-related causes. Androgenic drugs that may cause hirsutism include testosterone, danazol, gestrinone, adrenocorticotropic hormone, high-dose corticosteroids, androgenic progestogens in oral contraceptives, and anabolic steroids. Non-androgenic drugs that may cause hirsutism include ciclosporin, diazoxide, minoxidil, phenytoin, and rarely, carbamazepine, sodium valproate, and acetazolamide. Drugs that may cause hypertrichosis

2013 NICE Clinical Knowledge Summaries

149. A Prospective Multi-Center Study of a Novel Dual-Wavelength Laser for Hair Removal

. Information provided by (Responsible Party): Cutera Inc. Study Details Study Description Go to Brief Summary: To evaluate the safety and efficacy of the Cutera excel HR dual wavelength 755nm Alexandrite and 1064nm Nd:YAG laser for hair removal. Condition or disease Intervention/treatment Phase Hypertrichosis Device: 755nm and 1064nm Nd:YAG laser Not Applicable Detailed Description: This is a multi-center prospective, open-label, uncontrolled multi-center study of up to 50 male or female subjects, age 18 (...) IPD: No Plan Description: Study terminated Additional relevant MeSH terms: Layout table for MeSH terms Hypertrichosis Hair Diseases Skin Diseases

2015 Clinical Trials

150. Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation. (PubMed)

than 5 years.The patient presented with osmotic diabetes symptoms and was noted to have dysplastic dentition, hypertrichosis, coarse and dysmorphic facial features. Acanthosis nigricans, skin tags and rugated hyperkeratosis were also evident on the posterior neck, axilla and groin. A homozygous INSR essential splice site mutation (c.1268 + 2T > C, p.G374 fs*12) was identified, for which both parents were found to be heterozygous. The patient was treated with twice daily injections of rhIGF1 (...) and metformin for more than 5 years with improvement in her acanthosis nigricans, hyperkeratosis and hypertrichosis. A dramatic fall in fasting insulin, HOMA-IR and HbA1c has been maintained over the entire course of treatment without adverse effects. Her linear growth velocity has remained on target for her predicted adult height.Our case demonstrates the effectiveness of rhIGF1 as an early treatment in a patient with a biallelic mutation within INSR without evidence of fluid retention, retinopathy, muscle

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2015 Diabetic Medicine

151. Differential mechanisms of Cantú syndrome–associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel (PubMed)

Differential mechanisms of Cantú syndrome–associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel Cantú syndrome (CS) is a rare disease characterized by congenital hypertrichosis, distinct facial features, osteochondrodysplasia, and cardiac defects. Recent genetic analysis has revealed that the majority of CS patients carry a missense mutation in ABCC9, which codes for the sulfonylurea receptor SUR2. SUR2 subunits couple with Kir6.x, inwardly rectifying

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2015 The Journal of general physiology

152. Cutaneous Manifestations in POEMS Syndrome: Case Report and Review (PubMed)

disease with monoclonal proliferation of plasmacytes and slow progression. Cutaneous alterations are present in 68% of patients with diffuse cutaneous hyperpigmentation, plethora and acrocyanosis. Leukonychia, necrotizing vasculitis, hypertrichosis and cutaneous thickening of sclerodermiform type are also cited. The onset of multiple cutaneous angiomas in this syndrome has been observed in 24-44% of patients.

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2015 Case reports in dermatology

153. Congenital Generalized Lipodystrophy: Identification of Novel Variants and Expansion of Clinical Spectrum. (PubMed)

features in all of our patients. Hepatomegaly was the second common feature. Some manifestations were exclusively noticed in our CGL2 patients; hypertrichosis, high-pitched voice and umbilical hernia. Bone cysts and history of seizures were noticed only in CGL1 patients. The findings of this study expand our knowledge of genotype-phenotype correlations in CGL patients. These results have important clinical applications in diagnosis and management of the CGL patients as well as in genetic counseling

2015 Clinical Genetics

154. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. (PubMed)

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. Zimmermann-Laband syndrome (ZLS) is a developmental disorder characterized by facial dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails and terminal phalanges, and hypertrichosis. We report that heterozygous missense mutations in KCNH1 account for a considerable proportion of ZLS. KCNH1 encodes the voltage-gated K(+) channel Eag1 (Kv10.1). Patch-clamp recordings showed strong negative

2015 Nature Genetics

155. Adverse effects of topical corticosteroids in paediatric eczema: Australasian consensus statement. (PubMed)

of atopic eczema is complex and multifaceted but a core component of therapy is to manage the inflammation with topical corticosteroids (TCS). Despite this, TCS are often underutilised by many parents due to corticosteroid phobia and unfounded concerns about their adverse effects. This has led to extended and unnecessary exacerbations of eczema for children. Contrary to popular perceptions, (TCS) use in paediatric eczema does not cause atrophy, hypopigmentation, hypertrichosis, osteoporosis, purpura

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2015 Australasian Journal of Dermatology

156. Becker's nevus with neurofibromatosis type 1 (PubMed)

with hypertrichosis. It is rarely associated with neurofibromatosis. We report a 22-years-old male with coexistent Becker's nevus and type 1 neurofibromatosis.

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2015 Annals of Indian Academy of Neurology

157. Congenital erythropoietic porphyria: a case where symptoms have been precipitated by an unrelated anaemia. (PubMed)

Sarkany R R eng Case Reports Letter 2014 07 26 England Br J Dermatol 0004041 0007-0963 0 Porphyrins IM Anemia complications Child Facial Dermatoses etiology Hand Dermatoses etiology Humans Hypertrichosis etiology Male Onycholysis etiology Porphyria, Erythropoietic complications Porphyrins urine 2014 3 8 6 0 2014 3 8 6 0 2015 5 13 6 0 ppublish 24601890 10.1111/bjd.12945

2014 British Journal of Dermatology

158. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2). (PubMed)

, dental and ophthalmological anomalies are common. Hypoglycaemia is more common in KS2 than in KS1. Facial dysmorphism with KDM6A mutations is variable and diagnosis on facial gestalt alone may be difficult in some patients. Hypertrichosis, long halluces and large central incisors may be useful clues to an underlying KDM6A mutation in some patients. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

2014 Clinical Genetics

159. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. (PubMed)

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. Wiedemann-Steiner Syndrome (WSS) is characterized by short stature, a variety of dysmorphic facial and skeletal features, characteristic hypertrichosis cubiti (excessive hair on the elbows), mild-to-moderate developmental delay and intellectual disability. [MIM#: 605130]. Here we report two unrelated children for whom clinical exome (...) identified in the KMT2A gene in patients 1 and 2, respectively.Based on the clinical and molecular findings, both patients appear to have novel presentations of WSS. As the hallmark hypertrichosis cubiti was not initially appreciated in either case, this syndrome was not suspected during the clinical evaluation. This report expands the phenotypic spectrum of the clinical phenotypes and KMT2A variants associated with WSS.

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2014 BMC Medical Genetics

160. Differential expression and functionality of ATP binding cassette transporters in the human hair follicle. (PubMed)

encourage further investigation of ABC transporters as potentially important regulators of HF epithelial biology. Clinically, pharmacological modulation of the activity of selected intrafollicular ABC transporters may permit novel therapeutic interventions, such as protecting HF stem cells from chemotherapy-induced damage, counteracting cholesterol-associated hypertrichosis, and manipulating the intrafollicular prostaglandin balance in androgenetic alopecia.© 2014 British Association of Dermatologists.

2014 British Journal of Dermatology

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