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81. CME Part 2: Hair disorders in cancer survivors Persistent chemotherapy-induced alopecia, persistent radiotherapy-induced alopecia, and hair growth disorders related to endocrine therapy or cancer surgery. (PubMed)

include persistent chemotherapy-induced alopecia, persistent radiotherapy-induced alopecia, endocrine therapy-induced alopecia and hirsutism, post-surgery alopecia and localized hypertrichosis, alopecia attributed to therapeutic transplants, and to novel anticancer therapies. The information contained in this continuing medical education article should facilitate a better understanding on hair disorders in cancer survivors, so that adequate support and therapies may be provided to cancer

2018 Journal of American Academy of Dermatology

82. Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: a study of 33 French cases. (PubMed)

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: a study of 33 French cases. Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which intellectual disability (ID) is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene (KMT2A) in 2012, only 31 cases of WSS have been described precisely in the literature. We report on 33 French individuals with a KMT2A mutation confirmed (...) and ophthalmological anomalies). Hypertrichosis cubiti that was supposed to be pathognomonic in the literature was found only in 61% of our cases. This is the largest series of WSS cases yet described to date. A majority of patients exhibited suggestive features, but others were less characteristic, only identified by molecular diagnosis. The prevalence of WSS was higher than expected in patients with ID, suggesting than KMT2A is a major gene in ID.© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

2018 Clinical Genetics

83. Progressive discoloration over the right shoulder. (PubMed)

Progressive discoloration over the right shoulder. The discolored patch on our patient's shoulder was nothing new-but when it grew in size and developed hypertrichosis, it prompted a closer investigation.

2018 Journal of Family Practice

84. Cantú syndrome with coexisting familial pituitary adenoma (Full text)

Cantú syndrome with coexisting familial pituitary adenoma Pseudoacromegaly describes conditions with an acromegaly related physical appearance without abnormalities in the growth hormone (GH) axis. Acromegaloid facies, together with hypertrichosis, are typical manifestations of Cantú syndrome.We present a three-generation family with 5 affected members, with marked acromegaloid facies and prominent hypertrichosis, due to a novel missense variant in the ABCC9 gene. The proband, a 2-year-old (...) girl, was referred due to marked hypertrichosis, noticed soon after birth, associated with coarsening of her facial appearance. Her endocrine assessment, including of the GH axis, was normal. The proband's father, paternal aunt, and half-sibling were referred to the Endocrine department for exclusion of acromegaly. Although the GH axis was normal in all, two subjects had clinically non-functioning pituitary macroadenomas, a feature which has not previously been associated with Cantú

2018 Endocrine PubMed

85. Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter (Full text)

, hypertrichosis, and respiratory insufficiency. The association between MDS and the duplication of the genes in the 1q41-qter region remains unknown.

2018 Human Genome Variation PubMed

86. The H Syndrome: A Genodermatosis (Full text)

The H Syndrome: A Genodermatosis H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures. Exophthalmos, malabsorption, renal

2018 Cureus PubMed

87. Identifying novel strategies for treating human hair loss disorders: Cyclosporine A suppresses the Wnt inhibitor, SFRP1, in the dermal papilla of human scalp hair follicles (Full text)

Identifying novel strategies for treating human hair loss disorders: Cyclosporine A suppresses the Wnt inhibitor, SFRP1, in the dermal papilla of human scalp hair follicles Hair growth disorders often carry a major psychological burden. Therefore, more effective human hair growth-modulatory agents urgently need to be developed. Here, we used the hypertrichosis-inducing immunosuppressant, Cyclosporine A (CsA), as a lead compound to identify new hair growth-promoting molecular targets. Through

2018 PLoS biology PubMed

88. Effectiveness and Safety of Intense Pulsed Light in Patients With Meibomian Gland Dysfunction

, LipiFlow thermal pulsation system, intraductal probing, debridement scaling and intense pulsed light (IPL). IPL is a broad spectrum, non-coherent and polychromatic light source with a wavelength spectrum of 500-1200 nm. It can be filtered to allow only a range of wavelengths to be emitted. Different wavelength makes different depth of tissue to absorb a specific light energy. Intense pulsed light (IPL) has been widely used in dermatology as a therapeutic tool for removal of hypertrichosis, benign

2018 Clinical Trials

89. Effects of VitaBeard® on Facial Hair Growth in Healthy Adult Men

or during the study, such as hormone replacement therapy (testosterone, estrogen, progesterone, etc.), anabolic steroids, chemotherapy, intravenous or oral B vitamins, 5α-reductase inhibitors (e.g minoxidil, finasteride, etc.), medications with anti-androgenic properties (e.g. cyproterone, pironolacotne, ketoconazole, flutamide, bicalutamide), medications that can potentially cause hypertrichosis (e.g. ciclosporin, diazoxide, phenytoin, psoralens), oral glucocorticoids (inhaled glucocorticoids

2018 Clinical Trials

90. Growth hormone deficiency as a cause for short stature in Wiedemann–Steiner Syndrome (Full text)

Growth hormone deficiency as a cause for short stature in Wiedemann–Steiner Syndrome Wiedemann-Steiner Syndrome (WSS) is a rare condition characterised by short stature, hypertrichosis of the elbow, intellectual disability and characteristic facial dysmorphism due to heterozygous loss of function mutations in KMT2A, a gene encoding a histone 3 lysine 4 methyltransferase. Children with WSS are often short and until recently, it had been assumed that short stature is an intrinsic part

2018 Endocrinology, diabetes & metabolism case reports PubMed

91. In Vivo Analysis of Prostaglandins-induced Ocular Surface and Periocular Adnexa Modifications in Patients with Glaucoma (Full text)

in this review.Prostaglandin-associated peri-orbitopathy, skin pigmentation and hypertrichosis, eyelash growth, and MGs dysfunction are the most frequent modifications of periocular tissues. They are induced by the tissue accumulation of PGAs, and FP receptor stimulation. Without preservatives, PGAs act as stimulators of conjunctival goblet cells, which are the main source of ocular surface mucoproteins, and seem to increase conjunctival epithelium microcysts proposed as in vivo hallmark of the trans-scleral aqueous

2018 In Vivo PubMed

92. Scrotal Rejuvenation (Full text)

Scrotal Rejuvenation Genital rejuvenation is applicable not only to women (vaginal rejuvenation) but also to men (scrotal rejuvenation). There is an increased awareness, reflected by the number of published medical papers, of vaginal rejuvenation; however, rejuvenation of the scrotum has not received similar attention in the medical literature. Scrotal rejuvenation includes treatment of hair-associated scrotal changes (alopecia and hypertrichosis), morphology-associated scrotal changes (...) (wrinkling and laxity), and vascular-associated scrotal changes (angiokeratomas). Rejuvenation of the scrotum potentially may utilize medical therapy, such as topical minoxidil and oral finasteride, for scrotal alopecia and conservative modalities, such as depilatories and electrolysis, for scrotal hypertrichosis. Lasers and energy-based devices may be efficacious for scrotal hypertrichosis and scrotal angiokeratomas. Surgical intervention is the mainstay of therapy for scrotal laxity; however

2018 Cureus PubMed

93. Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome. (PubMed)

of the TRAAK/TREK subfamily of two-pore-domain (K2P) K+ channels. While K2P channels are well known to contribute to the resting membrane potential and cellular excitability, their involvement in pathophysiological processes remains largely uncharacterized. We report that de novo missense mutations in KCNK4 cause a recognizable syndrome with a distinctive facial gestalt, for which we propose the acronym FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay

2018 American Journal of Human Genetics

94. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. (PubMed)

and Nicolaides-Baraitser syndromes and includes prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose. Nine out of the fifteen individuals harbor variants in the highly conserved SMARCC2 DNA-interacting domains (SANT and SWIRM) and present with a more severe phenotype. Two of these individuals present cardiac abnormalities. Transcriptomic analysis of fibroblasts from

2018 American Journal of Human Genetics

95. Skin lesions in organ transplant recipients: a study of 177 consecutive Brazilian patients. (PubMed)

tumor type affecting 36% of OTR (n = 64), with invasive SCC predominating over in situ SCC, whereas basal cell carcinoma (BCC) accounted for 17%. Both SCC and BCC were more numerous in patients' skin type I (P < 0.05). SCC was more frequent (36%) in combined kidney and liver recipients (P = 0.004), and BCC was associated with cyclosporine (P = 0.047). Inflammatory complications (acne, alopecia, hypertrichosis, and gingival overgrowth) were observed in 17.5% of patients.Organ transplant recipients

2018 International Journal of Dermatology

96. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. (PubMed)

and tip and anteverted nostrils, thick arched eye brows, hypertrichosis, pointed chin, and hypertelorism. Birthweight in the upper normal range was observed in most, and all but one had congenital heart defects (CHD). Gene expression analysis in available cells from affected individuals showed reduced expression of TMEM94. Global transcriptome profiling using microarray and RNA sequencing revealed several dysregulated genes essential for cell growth, proliferation and survival that are predicted

2018 American Journal of Human Genetics

97. Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®): Health Professional Version

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 of Wilms tumor Nonsyndromic causes of Wilms tumor include the following: Familial Wilms tumor. Despite the number of genes that appear to be involved in the development of Wilms tumor, familial Wilms tumor is uncommon, with approximately 2% of patients having

2016 PDQ - NCI's Comprehensive Cancer Database

98. Alopecia, androgenetic - female

daily. Although one of these studies found no statistically significant difference in the number of adverse events reported in either intervention group, the number of participants reporting adverse events favoured the lower concentration in the other study. Hypertrichosis (more hair growth on areas other than the scalp), dermatitis, and itch were reported more frequently in the minoxidil 5% group [ ]. Treatments not recommended Finasteride is not licensed for use in female pattern hair loss (...) [ ], there is no published evidence on its safe use in breastfeeding, and the manufacturer recommends that it should be avoided in lactating women [ ]. Topical minoxidil should be used with caution in people with known cardiovascular disease or cardiac arrhythmias. Advise women to wash hands thoroughly after applying the solution. [ ; ] Adverse effects What are the adverse effects of topical minoxidil 2%? Adverse effects of topical minoxidil 2% may include: Hypertrichosis (unwanted non-scalp hair, including facial hair

2016 NICE Clinical Knowledge Summaries

99. H syndrome: 5 new cases from the United States with novel features and responses to therapy. (Full text)

H syndrome: 5 new cases from the United States with novel features and responses to therapy. H Syndrome is an autosomal recessive disorder characterized by cutaneous hyperpigmentation, hypertrichosis, and induration with numerous systemic manifestations. The syndrome is caused by mutations in SLC29A3, a gene located on chromosome 10q23, which encodes the human equilibrative transporter 3 (hENT3). Less than 100 patients with H syndrome have been described in the literature, with the majority (...) , including hyperpigmentation, hypertrichosis, short stature, insulin-dependent diabetes, arthritis and systemic inflammation, as well as some novel features, including selective IgG subclass deficiency and autoimmune hepatitis. They share genetic mutations previously described in patients of the same ethnic background, as well as a novel mutation. In two patients, treatment with prednisone improved inflammation, however both patients flared once prednisone was tapered. In one of these patients, treatment

2017 Pediatric Rheumatology PubMed

100. Clinicopathologic characteristics of early-onset Becker's nevus in Korean children and adolescents. (Full text)

involvement tended to make severe cosmetic concerns. In contrast, hypertrichosis was more frequent in CSMH. Either skin-colored lesion or pseudo-Darier's sign was not seen in early-onset BN. BN showed less dermal smooth muscle than CSMH.Androgens themselves do not seem to be related to the development of BN but play only an aggravating role especially in male patients. Considering high occurrence in exposed areas, BN may distress patients severely. As early laser treatment may be helpful in some patients

2017 International Journal of Dermatology PubMed

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