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161. Skin Lesions in Dialysis - Part 2

. Other clinical manifestations include hypertrichosis, hyperpigmentation, dark urine and pruritis. Histologically PCT is characterized by subepidermal separation of the skin with little or no inflammation. On IF, IgG and C3 can be seen along the dermoepidermal junction. Diagnosis in dialysis patients is by looking at the fractional levels of plasma porphyrin precursors. Treatment includes avoiding sun exposure and regular phlebotomy. Higher doses of ESA are usually required to avoid anemia (...) . Chloroquine has also been used for this disorder but with varying results. Pseudoporphyria (PP) This disorder is also known as bullous dermatosis of ESRD. It has exactly the same clinical and histopathological changes as PCT (except there are no sclerodermoid changes or hypertrichosis in PP). However, there are no biochemical abnormalities of heme metabolism or porphyrins. This distinguishes it from PCT. One must be aware, however, that plasma uroporphyrin is increased at baseline in dialysis patients

2013 Renal Fellow Network

162. The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3' End of KRT10: From Disease to a Syndrome. (PubMed)

with IWC revealed a novel spectrum of phenotypes. We found several features that qualify as major criteria for diagnosis, which are clearly and consistently associated with the condition. These included malformation of ears, hypoplasia of mammillae, and dorsal acral hypertrichosis. Genetic analysis of patients revealed several different frameshift mutations in intron 6 or exon 7 of KRT10. Analysis of this locus in 17 unrelated control individuals revealed 2 novel polymorphisms of KRT10.We present

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2014 JAMA dermatology (Chicago, Ill.)

163. Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients. (PubMed)

-phenotype correlations in patients sharing the same defects (at the genomic or transcript level) and specific clinical signs, demonstrated here in two cases. The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously overlooked in RSTS diagnosis, now could be considered. Some suggested correlations between organ-specific anomalies and affected CREB-binding protein domains broaden the RSTS

2014 Clinical Genetics

164. Efficacy and Safety of Platelet Rich Plasma in Androgenetic Alopecia

in orthopedic surgery, dental surgery and dermatology. Recently, there have been reports supporting the use of PRP in the treatment of hair loss. Androgenetic alopecia (AGA) is the most common cause of hair loss. It has very limited treatment modalities which includes minoxidil, 5-alpha reductase inhibitors and hair transplantation. Each option has its own side effects range from hypertrichosis which is excessive hair growth, possible birth defects if given to women of child bearing age, decreased libido

2014 Clinical Trials

165. A Randomized, Double-blind Clinical Trial to Evaluate the Safety and Efficacy of the X5 HairLaser for the Treatment of Androgenetic Alopecia in Males

, anabolic steroids, medications which can potential cause hypertrichosis, oral glucocorticoids, lithium, phenothiazines, or other medication at the discretion of the investigator Has used or currently takes Minoxidil during 12 months prior to screening. Has "buzz" cut hairstyle, defined as hair cut to less than one inch in length. Has light blond, light gray or white hair, at the discretion of the investigator. Has a chronic dermatological condition (eczema, psoriasis, infection, etc) of the scalp other

2014 Clinical Trials

166. Efficacy of Nutrition Supplement for Treatment of Men With Hair Loss

, prostate cancer) and hormone replacement therapy for transgenders Medications with anti-androgenic properties (cyproterone, spironolactone, ketoconazole, flutamide, progesterone, and bicalutamide) Medications that can potentially cause hypertrichosis (e.g. cyclosporine, diazoxide, phenothiazines, zidovudine, tamoxifen, carpronium chloride), Medications that can potentially cause alopecia such as oral glucocorticoids, lithium, phenothiazines, tamoxifen. Use of the following medications within the past 3

2014 Clinical Trials

167. Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene (PubMed)

activity. We screened KCNJ8 in an ABCC9 mutation-negative patient who also exhibited clinical hallmarks of CS (hypertrichosis, macrosomia, macrocephaly, coarse facial appearance, cardiomegaly, and skeletal abnormalities). We identified a de novo missense mutation encoding Kir6.1[p.Cys176Ser] in the patient. Kir6.1[p.Cys176Ser] channels exhibited markedly higher activity than wild-type channels, as a result of reduced ATP sensitivity, whether coexpressed with SUR1 or SUR2A subunits. Our results identify

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2014 Human mutation

168. ‘A Wonderfull Monster Borne in Germany’: Hairy Girls in Medieval and Early Modern German Book, Court and Performance Culture (PubMed)

‘A Wonderfull Monster Borne in Germany’: Hairy Girls in Medieval and Early Modern German Book, Court and Performance Culture Human hirsuteness, or pathological hair growth, can be symptomatic of various conditions, including genetic mutation or inheritance, and some cancers and hormonal disturbances. Modern investigations into hirsuteness were initiated by nineteenth-century German physicians. Most early modern European cases of hypertrichosis (genetically determined all-over body (...) and facial hair) involve German-speaking parentage or patronage, and are documented in German print culture. Through the Wild Man tradition, modern historians routinely link early modern reception of historical hypertrichosis cases to issues of ethnicity without, however, recognising early modern awareness of links between temporary hirsuteness and the pathological nexus of starvation and anorexia. Here, four cases of hirsute females are reconsidered with reference to this medical perspective

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2014 German Life and Letters

169. A case of Barber-Say syndrome in a male Japanese newborn (PubMed)

A case of Barber-Say syndrome in a male Japanese newborn We reported a case of Barber-Say syndrome (BSS) in a Japanese newborn. Distinctive features of BSS were found; macrostomia, gingival dysplasia, cup-shaped low-set ears, wrinkling redundant skin, and hypertrichosis. Fundus showed subretinal drusenoid deposits, a novel finding of BSS. Genetic analysis is underway using next-generation genome sequencing and microarray analysis.

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2014 Clinical Case Reports

170. Wilms Tumor and Other Childhood Kidney Tumors

; and vertebral, ocular, and renal abnormalities. It has been reported with Wilms tumor in two cases with identified mutations.[ ] Bohring-Opitz syndrome. Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture, severe intellectual disability, and feeding issues. The syndrome is associated with ASXL1 mutations and an estimated 7% incidence of Wilms tumor.[ ] Nonsyndromic causes

2012 PDQ - NCI's Comprehensive Cancer Database

171. Neurofibromatosis (Overview)

of hypertrichosis occasionally overlay plexiform neurofibromas. Axillary freckling is also known as the Crowe sign. This pigmentary change is seen in about one third of individuals affected with neurofibromatosis type 1, but it can also be seen in several other conditions. Neurofibromas Neurofibromas are the most common benign tumor of type 1 neurofibromatosis. These tumors are composed of Schwann cells, fibroblasts, mast cells, and vascular components. They can develop at any point along a nerve. Three


172. Nonlaser Hair Removal Techniques (Overview)

, abdomen) caused by excess androgens in women [ , , , ] Hypertrichosis: Congenital or drug-induced increase in hair growth in areas that are not androgen dependent; occurs in both men and women Pseudofolliculitis (second image below): Hair growth from grafted donor sites, preoperative hair removal, and sex-change operations performed in men The third image below depicts the anatomy of a hair follicle. Woman with hirsutism. Man with pseudofolliculitis barbae on his neck. Anatomy of a hair follicle. Many


173. Erythropoietic Porphyria (Overview)

that are biologically useless but cause cutaneous photosensitivity characterized by blisters, erosions, and scarring of light-exposed skin. Clinical manifestations can range from mild to severe. Chronic damage of skin, cartilage, and bones can cause mutilation. Hypertrichosis, erythrodontia, and reddish-colored urine are often present. Hemolytic anemia can be mild or severe, with resultant splenomegaly and osseous fragility. The following is a selection of other porphyria-related articles: Also see the figure below


174. Epidermal Nevus Syndrome (Overview)

, giving rise to Cowden disease. The combination of nevoid hypertrichosis, diffuse lipoatrophy, and epidermal nevus has been suggested as a possible new epidermal nevus syndrome. [ ] Thus, the epidermal nevus syndrome may be best viewed as a heterogeneous congenital disorder that includes both the keratinocytic epidermal nevus syndrome and sebaceous nevus syndrome. [ ] An individual patient may have the same postzygotic HRAS and KRAS gene mutations and be evident clinically with distinct features. Next (...) . . Groesser L, Herschberger E, Sagrera A, Shwayder T, Flux K, Ehmann L, et al. Phacomatosis Pigmentokeratotica Is Caused by a Postzygotic HRAS Mutation in a Multipotent Progenitor Cell. J Invest Dermatol . 2013 Jan 21. . Happle R. Linear Cowden nevus: a new distinct epidermal nevus. Eur J Dermatol . 2007 Mar-Apr. 17(2):133-6. . Bakhach M, Abbas O, Kibbi AG, Kurban M, Jundi MA. Nevoid hypertrichosis, diffuse lipoatrophy and epidermal nevus: a new syndrome?. Int J Dermatol . 2013 Mar 3. . Igawa S, Honma M


175. Alopecia Areata (Follow-up)

are applied twice per day regardless of the extent of the affected area. Initial regrowth can be seen within 12 weeks, but continued application is needed to achieve cosmetically acceptable regrowth. Minoxidil usually is well tolerated. Adverse effects include distant hypertrichosis (5%) and irritation (7%). The exact mechanism of action of minoxidil remains unclear. Minoxidil does not appear to have either a hormonal or an immunosuppressant effect. Minoxidil most likely has a direct mitogenic effect (...) , psychological changes, osteoporosis, suppression of the adrenocorticotropic axes, striae, acne, hypertrichosis, and purpura. Systemic steroids most likely are effective via their immunosuppressive effects. An initial benefit may occur by using systemic prednisone in some patients, but the relapse rate is high, and it does not appear to alter the course of the condition. Systemic prednisone is not an agent of choice for alopecia areata because of the adverse effects associated with both short- and long-term


176. Body Dysmorphic Disorder (Follow-up)

cutaneous reactions, such as the following: [ ] Cutaneous Reactions Associated with SSRIs Cutaneous Reaction Spontaneous bruising Pruritus Urticaria Angioedema Erythema multiforme Stevens-Johnson syndrome Toxic epidermal necrolysis Erythema nodosum Alopecia Hypertrichosis Leukocytoclastic vasculitis Acneiform eruption Because cross-reactions may occur between SSRIs, even those with different chemical structures, switching to another family of antidepressants may be advisable if an SSRI is linked (...) multiforme Stevens-Johnson syndrome Toxic epidermal necrolysis Erythema nodosum Alopecia Hypertrichosis Leukocytoclastic vasculitis Acneiform eruption Typical Mean and Maximum Dosing of SSRIs [ ] Medication Mean Dose Max Dose Fluoxetine 67 ± 24 mg 120 mg Fluvoxamine 308 ± 49 mg 450 mg Sertraline 202 ± 46 mg 400 mg Paroxetine 55 ± 13 mg 90 mg Citalopram 66 ± 36 mg 40 mg* Escitalopram 29 ± 12 mg 60 mg Clomipramine 203 ± 53 mg 250 mg Contributor Information and Disclosures Author Iqbal Ahmed, MBBS, FRCPsych


177. Becker Melanosis (Follow-up)

Updated: May 24, 2018 Author: Jason K Rivers, MD, FRCPC; Chief Editor: Dirk M Elston, MD Share Email Print Feedback Close Sections Sections Becker Melanosis Treatment Surgical Care Therapeutic intervention for Becker nevus primarily is for cosmetic reasons. Patients present with complaints related to hypertrichosis and/or hyperpigmentation. Q-switched ruby laser (694 nm) has been used with variable success in the treatment of both the hypertrichosis and hyperpigmentation of Becker nevus (...) may recur at the treated site (author's personal observations). In sum, laser treatment of Becker nevus yields variable results and further studies are needed to determine the best way to reduce the appearance of these lesions without causing postlaser dyschromia or scarring. [ ] Also see the Medscape article . References Becker SW. Concurrent melanosis and hypertrichosis in a distribution of nevus unius lateris. Arch Dermatol . 1948. 60:155-60. Grande Sarpa H, Harris R, Hansen CD, Callis Duffin


178. Skin, Congenital Hairy Nevi

of males and consists of a sharply but irregularly demarcated area demonstrating hyperpigmentation and hypertrichosis. [ ] Click for more information and for images. Café-au-lait macules: These flat, light brown surface lesions are associated with neurofibromas. [ ] Click to view an image of Café-au-lait macules. Congenital blue nevus: This lesion is a small, well circumscribed, dome-shaped nodule of slate blue or bluish-black color. [ ] See Medscape Reference article for more information

2014 eMedicine Surgery

179. Gigantism and Acromegaly (Diagnosis)

configuration) Wide spacing of the teeth and prognathism Cutis verticis gyrata (ie, furrows resembling gyri of the scalp) [ ] Small sessile and pedunculated fibromas (ie, skin tags) Hypertrichosis Oily skin (acne is not common) Hyperpigmentation (40% of patients) Acanthosis nigricans (a small percentage of patients) Excessive eccrine and apocrine sweating Breast tissue becoming atrophic; galactorrhea High blood pressure Mitral valvular regurgitation Mild hirsutism (in women) Diagnosis Laboratory studies

2014 eMedicine Pediatrics

180. Sign of Leser-Trelat (Follow-up)

, Corbella L, Rebora A. Multiple familial seborrheic keratoses. Dermatologica . 1988. 176(1):43-5. . Dasanu CA, Alexandrescu DT. Bilateral Leser-Trelat sign mirroring lung adenocarcinoma with early metastases to the contralateral lung. South Med J . 2009 Feb. 102(2):216-8. . Janniger EJ, Schwartz RA. Florid cutaneous papillomatosis. J Surg Oncol . 2010 Nov 1. 102(6):709-12. . Jemec GB. Hypertrichosis lanuginosa acquisita. Report of a case and review of the literature. Arch Dermatol . 1986 Jul. 122(7):805


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