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Hypertrichosis

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181. Dysmorphophobia (Diagnosis)

Body build Neck Arm/wrist Face muscles Eyebrows Eyebrows 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 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

2014 eMedicine.com

182. Dermatologic Manifestations of Gastrointestinal Disease (Diagnosis)

uroporphyrinogen decarboxylase (UROD), the fifth enzyme in the heme biosynthetic pathway. Cutaneous findings are characterized by skin photosensitivity with increased skin fragility, facial hypertrichosis, blisters, scarring with milia formation, and skin hyperpigmentation on the hands and other sun-exposed areas. Porphyria cutanea tarda results from the decreased activity of the enzyme uroporphyrinogen decarboxylase (UROD), the fifth enzyme in the heme biosynthetic pathway. The disease can be either sporadic

2014 eMedicine.com

183. Dermatologic Manifestations of Renal Disease (Diagnosis)

transplantation. Medication-related dermatologic disorders Medication-related disorders include the following: Cushingoid changes Gingival hyperplasia (see the following image) Disorders of the pilosebaceous unit, including acne, folliculitis, hypertrichosis, keratosis pilaris, sebaceous gland hyperplasia, epidermal cysts (see the image below) Many cutaneous changes seen in the renal transplant recipient (RTR) are related directly to medications used to suppress rejection of renal allograft. A full-blown (...) with reduction of the corticosteroid dose. Sebaceous gland hyperplasia and epidermal cysts are found with increased frequency and have been associated with the use of both corticosteroids and CyA. Hypertrichosis develops in 60% of patients and may be associated with the development of keratosis pilaris. Lesions of steroid-induced acne (evident on the back of a renal transplant patient) may be severe. Immunosuppression-related disorders Immunosuppression-related disorders include the following: Viral

2014 eMedicine.com

184. Dermatologic Manifestations of Hematologic Disease (Diagnosis)

changes are commonly observed in patients with POEMS syndrome, with 93-98% having diffuse hyperpigmentation and 92% having peripheral edema. Skin thickening with sclerodermoid changes and thickening, which can limit function, are seen in 77% of patients. Ascites and pleural effusions are occasionally reported. Hypertrichosis, manifested as coarse black hair, appears on extremities in one fourth of patients. Hypertrichosis is either generalized or limited to certain body areas, such as extremities

2014 eMedicine.com

185. Body Dysmorphic Disorder (Diagnosis)

Body build Neck Arm/wrist Face muscles Eyebrows Eyebrows 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 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

2014 eMedicine.com

186. Becker Melanosis (Diagnosis)

Author: Jason K Rivers, MD, FRCPC; Chief Editor: Dirk M Elston, MD Share Email Print Feedback Close Sections Sections Becker Melanosis Overview Background Becker melanosis was described in 1948 by S. William Becker in two young men with acquired melanosis and hypertrichosis in a unilateral distribution. [ ] Since then, this condition has been termed Becker nevus. Next: Pathophysiology The pathogenesis and etiology of Becker nevus remain uncertain. Androgens may play a role in Becker melanosis (...) , as evidenced by its peripubertal development, male preponderance, hypertrichosis, occasional development of acneform lesions within the patch, and rare association with accessory scrotum in the genital region. In addition, a significant increase in the number of androgen receptors in Becker melanosis lesional skin has been reported. [ ] Previous Next: Epidemiology Frequency A study of 19,302 men aged 17-26 years revealed a prevalence of Becker melanosis of 0.52%. Sex Males are affected by Becker melanosis

2014 eMedicine.com

187. Waardenburg Syndrome (Diagnosis)

and partial albinism as occurring as complications of deafmutism. In 1916, van der Hoeve described a dystopia canthi medialis lateroversa in a pair of monozygotic twin girls with deafmutism. In 1951, Waardenburg [ ] defined the syndrome with the following 6 main features: Lateral displacement of the medial canthi combined with dystopia of the lacrimal puncta and blepharophimosis Prominent broad nasal root Hypertrichosis of the medial part of the eyebrows White forelock Heterochromia iridis Deafmutism (...) In 1947, Klein reported a case of a 10-year-old girl with deafmutism, partial albinism of the skin and hair, hypochromia iridis, blepharophimosis with hypertelorism and absence of the nasofrontal angle, hypertrichosis of the eyebrows, and multiple associated abnormalities (myo-osteo-articulare dysplasia). Next: Pathophysiology Waardenburg syndrome is a rare disease with an autosomal dominant mode of inheritance. Several hypotheses, including the following, have been advanced to explain all

2014 eMedicine.com

188. Acromegaly (Follow-up)

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 used in the diagnosis of growth hormone (GH

2014 eMedicine.com

189. Acromegaly (Follow-up)

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 used in the diagnosis of growth hormone (GH

2014 eMedicine.com

190. Winchester Syndrome (Diagnosis)

, 2018 Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD Share Email Print Feedback Close Sections Sections Winchester Syndrome Overview Background Winchester syndrome (WS) is a syndrome of pathologic changes consisting of dwarfism (resulting from disturbances of the skeletal-articular system), corneal opacities, coarsening of facial features, leathery skin, and hypertrichosis. It is one of the inherited osteolyses, or “vanishing bone” syndromes. [ ] In 1969, Winchester et al first

2014 eMedicine.com

191. Lipodystrophy, Generalized (Diagnosis)

bone age, dilation of the cerebral ventricles, hepatosplenomegaly with cirrhosis, generalized muscular overdevelopment, hypertrichosis, hypertension, punctate corneal opacities, and brownish pigmentation over the flexural creases. In 1960, Schwartz and coworkers first associated AN with the congenital syndrome described earlier, and since then, many more patients have been described. This entity is now known as generalized lipodystrophy or Lawrence-Seip syndrome. This syndrome is clearly distinct (...) may account for the lack of new cases. A common normal chromosome variant, heterochromatic 9qh+, has been found in some affected individuals, but as would be expected, in 1 family, it also was observed in an unaffected sibling. Hyperinsulinemia and insulin resistance characterize generalized lipodystrophy. This hyperinsulinemia also may account for acromegaly, enlargement of the kidneys, and hypertrichosis through cross-reactivity with somatomedin at the receptor level. Many of the metabolic

2014 eMedicine.com

192. Florid Cutaneous Papillomatosis (Diagnosis)

papillomatosis include other intra-abdominal tumors, such as cancer of the urinary bladder, biliary ducts, ovaries, and uterus; breast adenocarcinoma; squamous cell carcinoma of the lungs; and non-Hodgkin lymphoma. Florid cutaneous papillomatosis occurs with signs of internal cancer. Although acanthosis nigricans and the sign of Leser-Trélat (ie, eruptive seborrheic keratoses) are most frequently linked to florid cutaneous papillomatosis, other signs, such as hypertrichosis lanuginosa acquisita, can

2014 eMedicine.com

193. Epidermal Nevus Syndrome (Diagnosis)

, 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

2014 eMedicine.com

194. Erythropoietic Porphyria (Diagnosis)

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

2014 eMedicine.com

195. Confluent and Reticulated Papillomatosis (Diagnosis)

. Others have also advanced this theory in light of the common observation of endocrine disturbances in patients with confluent and reticulated papillomatosis (eg, , , , abnormal glucose tolerance or diabetes mellitus, thyroid disease, pituitary dysfunction, hirsutism or hypertrichosis). It has been described in at least one patient with hyperthyroidism. [ ] In Japan, 76.5% of cases of confluent and reticulated papillomatosis are associated with obesity or rapid weight gain. In addition, lesions

2014 eMedicine.com

196. Oral Manifestations of Systemic Diseases (Treatment)

phenotype and severity of symptoms vary greatly and include nonimmune hydrops fetalis in utero, scarring and deformities, hemolytic anemia, corneal scarring, and blindness. Cutaneous manifestations include severe photosensitivity with blistering hypertrichosis. [ ] In the oral cavity, erythrodontia, a red-brown discoloration of the teeth, is pathognomonic for congenital erythropoietic porphyria. [ , ] Teeth appear bright red with exposure to UV fluorescence. [ ] It has been proposed that erythrodontia

2014 eMedicine.com

197. Oral Fibromas and Fibromatoses (Treatment)

as isolated or diffuse firm, noninflammatory enlargements of the keratinized gingiva. Although the process is typically nonpainful, the enlarged gingiva may eventually cover large portions of the clinical crowns of teeth and erode the underlying bone. Recurrence is common following surgical excision. The hereditary form may also manifest as a component of a larger complex syndrome (eg, gingival fibromatosis with hypertrichosis syndrome, Zimmermann-Laband syndrome, Cross syndrome). Both the idiopathic (...) - A Case Report and Review. West Indian Med J . 2015 Jun. 64 (3):279-82. . Livada R, Shiloah J. Calcium channel blocker-induced gingival enlargement. J Hum Hypertens . 2014 Jan. 28 (1):10-4. . Balaji P, Balaji SM. Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome. Indian J Dent Res . 2017 Jul-Aug. 28 (4):457-460. . Stokes SM, Sherban M, Carle L, Dryden S. A rapidly enlarging gingival mass in an 11-year-old boy. J Am Dent Assoc . 2016 Jan. 147 (1):58-63. . Smith MH, Reith

2014 eMedicine.com

198. Schwartz-Jampel Syndrome (Overview)

development Unusual facies characterized by a puckered facial appearance Small muscle mass and joint deformities - Eg, coxa valga, irregularity of the capital femoral epiphyses, pectus carinatum ("pigeon breast") Hypertrichosis of the eyelids Slightly elevated serum aldolase level Electromyography (EMG) was not performed. The authors proposed that the disease might represent a generalized problem with muscle and tendon development during infancy. SJS type I The clinical features of muscle stiffness in SJS

2014 eMedicine.com

199. Sign of Leser-Trelat (Treatment)

, 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

2014 eMedicine.com

200. Alopecia Areata (Treatment)

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

2014 eMedicine.com

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