TRANSCRIPT S2.E9 Hyperpigmentation Dr Blake
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Successful Repigmentation of Vitiligo-Like Hypopigmentation in a Case of Acanthosis Nigricans
Brief Report follicles. Clin Exp Dermatol 2005;30:426-428. 4. Feldmann KA, Dawber RP, Pittelkow MR, Ferguson DJ. 2. Giehl KA, Ferguson DJ, Dawber RP, Pittelkow MR, Foehles J, Newly described weathering pattern in pili annulati hair de Berker DA. Update on detection, morphology and fragility shafts: a scanning electron microscopic study. J Am Acad in pili annulati in three kindreds. J Eur Acad Dermatol Dermatol 2001;45:625-627. Venereol 2004;18:654-658. 5. Werner K, St-Surin-Lord S, Sperling LC. Pili annulati associ- 3. Akoglu G, Emre S, Metin A, Erbil KM, Akpolat D, Firat A, et ated with hair fragility: cause or coincidence? Cutis 2013; al. Pili annulati with fragility: electron microscopic findings 91:36-38. of a case. Int J Trichology 2012;4:89-92. https://doi.org/10.5021/ad.2017.29.2.256 Successful Repigmentation of Vitiligo-Like Hypopigmentation in a Case of Acanthosis Nigricans Seung Hyun Chun, Ji Hyun Park, Jae Beom Park, Il-Hwan Kim Department of Dermatology, Korea University Ansan Hospital, College of Medicine, Korea University, Ansan, Korea Dear Editor: Although the patient had previously taken oral metformin Acanthosis nigricans (AN) is characterized by hyper- for a year, he was not taking any medication at the time of pigmented thickened skin with velvety texture in the visit. No similar skin lesions could be found in family flexural areas such as axillae, neck, groin, inner thigh, um- members of the patient. bilicus, and perianal area. Obesity, insulin resistance, and Skin biopsy was performed on both hyperpigmented and hyperinsulinemia are often found in association with AN1. -
Pigmented Purpuric Dermatosis
Journal of Paediatrics and Neonatal Disorders Volume 3 | Issue 2 ISSN: 2456-5482 Case Report Open Access Pigmented Purpuric Dermatosis Jacob M, Wright R, Mazur L and Aly F* Department of Pediatrics, the University of Texas Health Science Center at Houston (UT Health), USA *Corresponding author: Aly F, MD, FAAP, Assistant Professor, Department of Pediatrics, The University of Texas Health Science Center at Houston (UTHealth), USA, Tel: 5053402221, E-mail: [email protected]. edu Citation: Jacob M, Wright R, Mazur L, Aly F (2018) Pigmented Purpuric Dermatosis. J Paediatr Neonatal Dis 3(2): 203 Received Date: June 29, 2018 Accepted Date: August 28, 2018 Published Date: August 30, 2018 Abstract The pigmented purpuric dermatoses (PPD) are skin rashes that are benign but can often be mistaken for other purpura-causing diseases, which must be ruled out. Although they are more prevalent in adults, they can also be seen in children. Though these dermatoses rarely involve other organs, the rash can be distressing for the parents of an adolescent or child. We presented a case of a 15 year old girl with a pathological diagnosis of eczematid-like form of PPD, which clinically diagnosed as the Schamberg’s form of PPD. Biopsy is frequently necessary to reach a final diagnosis. Keywords: Pigmented Purpuric Dermatoses; Schamberg Disease; Eczematid-like Type; Rutoside; Ascorbic Acid List of abbreviations: PPD: Pigmented Purpuric Dermatoses Case Report A 15 year old female presented to the clinic with a six month history of a ‘rash’ on her arms and legs. It started on the feet and spread to her upper legs and arms. -
Cutaneous Manifestations of Systemic Diseases 428 C2 Notes Dr
Cutaneous Manifestations of systemic diseases 428 C2 Notes Dr. Eman Almukhadeb Cutaneous Manifestations of systemic diseases Dr. Eman Almukhadeb CUTANEOUS MANIFESTATIONS OF DIABETES MELLITUS: Specific manifestations: 1 Cutaneous Manifestations of systemic diseases 428 C2 Notes Dr. Eman Almukhadeb 1. Diabetes dermopathy or “SHIN SPOTS”: Most common cutaneous manifestation of diabetes; M > F, males over age 50 years with long standing diabetes. They are: bilateral, symmetrical, atrophic red-brownish macules and patches, over the shins mainly but can occur at any sites, asymptomatic. There is no effective treatment. 2. Necrobiosis Lipoidica Diabeticorum (NLD): Patients classically present with single or multiple red-brown papules, which progress to sharply demarcated yellow-brown atrophic, telangiectatic erythematic plaques with a violaceous, irregular border. Usually it’s unilateral. Common sites include shins followed by ankles, calves, thighs and feet. Very atrophic plaque so any trauma will lead to ulceration, it occurs in about 35% of cases. Cutaneous anesthesia, hypohidrosis and partial alopecia can be found Pathology: Palisading granulomas containing degenerating collagen. The nonenzymatic glycosylation of dermal collagen and elastin will lead to degeneration of the collagen and atrophy (necrobiosis). 2 Cutaneous Manifestations of systemic diseases 428 C2 Notes Dr. Eman Almukhadeb Approximately 60% of NLD patients have diabetes and 20% have glucose intolerance. Conversely, up to 3% of diabetics have NLD, so if a patient has NLD its common that he is diabetic, but not every diabetic patient have NLD. (Important) Women are more affected than men. Treatment: Ulcer prevention (by avoiding trauma). No impact of tight glucose control on likelihood of developing NLD. There are multiple treatment options available and all of them reported to be effective: o Intralesional steroids o Systemic aspirin: 300mg/day and dipyridamole: 75 mg/day. -
Incontinentia Pigmenti
Incontinentia Pigmenti Authors: Prof Nikolaos G. Stavrianeas1,2, Dr Michael E. Kakepis Creation date: April 2004 1Member of The European Editorial Committee of Orphanet Encyclopedia 2Department of Dermatology and Venereology, A. Sygros Hospital, National and Kapodistrian University of Athens, Athens, Greece. [email protected] Abstract Keywords Definition Epidemiology Etiology Clinical features Course and prognosis Pathology Differential diagnosis Antenatal diagnosis Treatment References Abstract Incontinentia pigmenti (IP) is an X-linked dominant single-gene disorder of skin pigmentation with neurologic, ophthalmologic, and dental involvement. IP is characterized by abnormalities of the tissues and organs derived from the ectoderm and mesoderm. The locus for IP is genetically linked to the factor VIII gene on chromosome band Xq28. Mutations in NEMO/IKK-y, which encodes a critical component of the nuclear factor-kB (NF-kB) signaling pathway, are responsible for IP. IP is a rare disease (about 700 cases reported) with a worldwide distribution, more common among white patients. Characteristic skin lesions are usually present at birth in approximately 90% of patients, or they develop in early infancy. The skin changes evolve in 4 stages in a fixed chronological order. Skin, hair, nails, dental abnormalities, seizures, developmental delay, mental retardation, ataxia, spastic abnormalities, microcephaly, cerebral atrophy, hypoplasia of the corpus callosum, periventricular cerebral edema may occur in more than 50% of reported cases. Ocular defects, atrophic patchy alopecia, dwarfism, clubfoot, spina bifida, hemiatrophy, and congenital hip dislocation, are reported. Treatment of cutaneous lesions is usually not required. Standard wound care should be provided in case of inflammation. Regular dental care is necessary. Pediatric ophthalmologist or retinal specialist consultations are essential. -
Dermatologic Manifestations of Hermansky-Pudlak Syndrome in Patients with and Without a 16–Base Pair Duplication in the HPS1 Gene
STUDY Dermatologic Manifestations of Hermansky-Pudlak Syndrome in Patients With and Without a 16–Base Pair Duplication in the HPS1 Gene Jorge Toro, MD; Maria Turner, MD; William A. Gahl, MD, PhD Background: Hermansky-Pudlak syndrome (HPS) con- without the duplication were non–Puerto Rican except sists of oculocutaneous albinism, a platelet storage pool de- 4 from central Puerto Rico. ficiency, and lysosomal accumulation of ceroid lipofuscin. Patients with HPS from northwest Puerto Rico are homozy- Results: Both patients homozygous for the 16-bp du- gous for a 16–base pair (bp) duplication in exon 15 of HPS1, plication and patients without the duplication dis- a gene on chromosome 10q23 known to cause the disorder. played skin color ranging from white to light brown. Pa- tients with the duplication, as well as those lacking the Objective: To determine the dermatologic findings of duplication, had hair color ranging from white to brown patients with HPS. and eye color ranging from blue to brown. New findings in both groups of patients with HPS were melanocytic Design: Survey of inpatients with HPS by physical ex- nevi with dysplastic features, acanthosis nigricans–like amination. lesions in the axilla and neck, and trichomegaly. Eighty percent of patients with the duplication exhibited fea- Setting: National Institutes of Health Clinical Center, tures of solar damage, including multiple freckles, stel- Bethesda, Md (a tertiary referral hospital). late lentigines, actinic keratoses, and, occasionally, basal cell or squamous cell carcinomas. Only 8% of patients Patients: Sixty-five patients aged 3 to 54 years were di- lacking the 16-bp duplication displayed these findings. -
Covid-19 and Ectodermal Dysplasia Article
COVID-19 and ectodermal dysplasias. Recommendations are necessary. Michele Callea: Unit of Dentistry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy [email protected] Colin Eric Willoughby: Ulster University and Belfast Health and Social Care Trust, NI, UK [email protected] Diana Perry: UK Ectodermal Dysplasia Society President [email protected] Ulrike Holzer: Leader of EDIN Ectodermal Dysplasia International Network. Austria [email protected] Giulia Fedele: Presidente ANDE, Associazione Nazionale Displasia Ectodermica. Italy [email protected] Antonio Cárdenas Tadich: Pediatrics Service, Regional Hospital of Antofagasta, Chile [email protected] Francisco Cammarata-Scalisi: Pediatrics Service, Regional Hospital of Antofagasta, Chile [email protected] Conflict of interest: None Running title: COVID-19 and ectodermal dysplasias Sources of support if any: None Disclaimer: “We confirm that the manuscript has been read and approved by all the authors, that the requirements for authorship as stated earlier in this document have been met, and that each author believes that the manuscript represents honest work” Corresponding author: This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process which may lead to differences between this version and the Version of Record.This Please article cite this is protected article as doi:by copyright. 10.1111/dth.13702 All rights reserved. Francisco Cammarata-Scalisi: -
Generalized Hypertrichosis
Letters to the Editor case of female. Ambras syndrome is a type of universal Generalized hypertrichosis affecting the vellus hair, where there is uniform overgrowth of hair over the face and external hypertrichosis ear with or without dysmorphic facies.[3] Patients with Gingival fi bromaatosis also have generalized hypertrichosis Sir, especially on the face.[4] Congenital hypertrichosis can A 4-year-old girl born out of non-consanguinous marriage occur due to fetal alcohol syndrome and fetal hydentoin presented with generalized increase in body hair noticed syndrome.[5] Prepubertal hypertrichosis is seen in otherwise since birth. None of the other family members were healthy infants and children. There is involvement of affected. Hair was pigmented and soft suggesting vellus hair. face back and extremities Distribution of hair shows an There was generalized increase in body hair predominantly inverted fi r-tree pattern on the back. More commonly seen affecting the back of trunk arms and legs [Figures 1 and 2]. in Mediterranean and South Asian descendants.[6] There is Face was relatively spared except for fore head. Palms and soles were spared. Scalp hair was normal. Teeth and nail usually no hormonal alterations. Various genodermatosis were normal. There was no gingival hypertrophy. No other associated with hypertrichosis as the main or secondary skeletal or systemic abnormalities were detected clinically. diagnostic symptom are: Routine blood investigations were normal. Hormonal Lipoatrophy (Lawrernce Seip syndrome) study was within normal limit for her age. With this Cornelia de Lange syndrome clinical picture of generalized hypertrichosis with no other Craniofacial dysostosis associated anomalies a diagnosis of universal hypertrichosis Winchester syndrome was made. -
611Dd03dd28f30fc24057930c32
Case Series Comparison of long-pulsed alexandrite laser and topical tretinoin-ammonium lactate in axillary acanthosis nigricans: A case series of patients in a before-after trial Amirhoushang Ehsani (MD) 1 Pedram Noormohammadpour (MD) 1 Abstract Azadeh Goodarzi (MD) 2 Background: Acanthosis nigricans (AN) is a brown to black, velvety hyperpigmentation Mostafa Mirshams Shahshahani (MD)1 of the skin that usually involves cutaneous folds. Treatment of AN is important regarding Seyede Pardis Hejazi (MD)1 cosmetic reasons and various therapeutic modalities have been used for these purposes. Elhamsadat Hosseini (MD)3 The goal of this study was to compare the effectiveness of long-pulsed alexandrite laser Arghavan Azizpour (MD)1 and topical tretinoin-ammonium lactate for treatment of axillary-AN. Methods: Fifteen patients with bilateral axillary-AN were studied in Razi Hospital, Tehran, Iran. Diagnosis was confirmed by two independent dermatologists. Each side skin 1. Department of Dermatology, lesion was randomly allocated to either topical mixed cream of tretinoin 0.05%- Razi Hospital, Tehran University of ammonium lactate 12% or long-pulsed alexandrite laser. Duration of treatment was 14 Medical Sciences (TUMS), Tehran, weeks. At endpoint, the mean percent reduction from baseline in pigmentation area was Iran. 2. Department of Dermatology, compared between the two groups. Rasul Akram Hospital, Iran Results: The study population consisted of 15 patients three males and 12, females. The University of Medical Sciences mean age of patients was 28.5±4.9 years. The mean percent reduction was 18.3±10.6%, in (IUMS), Tehran, Iran. 3. Baghiatallah University of tretinoin/ammonium lactate group and 25.7±11.8% in laser group (P=0.004). -
Pigmented Contact Dermatitis and Chemical Depigmentation
18_319_334* 05.11.2005 10:30 Uhr Seite 319 Chapter 18 Pigmented Contact Dermatitis 18 and Chemical Depigmentation Hideo Nakayama Contents ca, often occurs without showing any positive mani- 18.1 Hyperpigmentation Associated festations of dermatitis such as marked erythema, with Contact Dermatitis . 319 vesiculation, swelling, papules, rough skin or scaling. 18.1.1 Classification . 319 Therefore, patients may complain only of a pigmen- 18.1.2 Pigmented Contact Dermatitis . 320 tary disorder, even though the disease is entirely the 18.1.2.1 History and Causative Agents . 320 result of allergic contact dermatitis. Hyperpigmenta- 18.1.2.2 Differential Diagnosis . 323 tion caused by incontinentia pigmenti histologica 18.1.2.3 Prevention and Treatment . 323 has often been called a lichenoid reaction, since the 18.1.3 Pigmented Cosmetic Dermatitis . 324 presence of basal liquefaction degeneration, the ac- 18.1.3.1 Signs . 324 cumulation of melanin pigment, and the mononucle- 18.1.3.2 Causative Allergens . 325 ar cell infiltrate in the upper dermis are very similar 18.1.3.3 Treatment . 326 to the histopathological manifestations of lichen pla- 18.1.4 Purpuric Dermatitis . 328 nus. However, compared with typical lichen planus, 18.1.5 “Dirty Neck” of Atopic Eczema . 329 hyperkeratosis is usually milder, hypergranulosis 18.2 Depigmentation from Contact and saw-tooth-shape acanthosis are lacking, hyaline with Chemicals . 330 bodies are hardly seen, and the band-like massive in- 18.2.1 Mechanism of Leukoderma filtration with lymphocytes and histiocytes is lack- due to Chemicals . 330 ing. 18.2.2 Contact Leukoderma Caused Mainly by Contact Sensitization . -
Cutaneous Markers of Internal Disease SUMMARY SOMMAIRE Cutaneous Markers of Internal Disease Are Les Indices Cutanes Des Maladies Internes Sont Nombreux
I I R. R. Forsey P. Michael Reardon Cutaneous Markers of Internal Disease SUMMARY SOMMAIRE Cutaneous markers of internal disease are Les indices cutanes des maladies internes sont nombreux. Cet article discute des desordres legion. This artide discusses the pigmentaires, de l'acanthosis nigricans, du prurit, pigmentary disorders, acanthosis nigricans, des xanthomes et du probleme de photosensibilit6, pruritus, the xanthomas and problems of soulignant les procedures appropriees afin d'etablir photosensitivity, outlinng the appropriate un diagnostic d6finitif et, dans certains cas, le procedures to establish a definite diagnosis, traitement de tels patients. and in some cases the management of such patients. (Can Fam Physician 1982; 28:1415-1421). ..I- a' Dr. Forsey is a consultant seen the patient for a long time. The to stimulate overlying melanocytes to dermatologist in the Department of following classification illustrates increase their activity. Dermatology at the Montreal many of the causes of generalized Gastrointestinal. Malabsorption General Hospital, and Dr. Reardon hyperpigmentation. from a variety of causes and biliary is chief resident in the same Endocrine. Addison's disease re- cirrhosis are associated with increased department. Reprint requests to: sults in hyperpigmentation secondary pigmentation.2 Dr. R. R. Forsey, 1414 Drummond to the effect of unsuppressed pituitary Connective Tissue Disease. Sclero- St., Suite 1005, Montreal, PQ. beta melanocyte stimulating hormone derma is occasionally associated with H3G lWl. (B-MSH)1 or cutaneous melanocytes. Addisonian-like pigmentation.2 Asso- Clinically, the pigmentation is diffuse ciated cutaneous signs usually leave but accentuated on exposed areas of little doubt as to the primary diag- T HE SKIN manifestations of inter- the body. -
X-Linked Diseases: Susceptible Females
REVIEW ARTICLE X-linked diseases: susceptible females Barbara R. Migeon, MD 1 The role of X-inactivation is often ignored as a prime cause of sex data include reasons why women are often protected from the differences in disease. Yet, the way males and females express their deleterious variants carried on their X chromosome, and the factors X-linked genes has a major role in the dissimilar phenotypes that that render women susceptible in some instances. underlie many rare and common disorders, such as intellectual deficiency, epilepsy, congenital abnormalities, and diseases of the Genetics in Medicine (2020) 22:1156–1174; https://doi.org/10.1038/s41436- heart, blood, skin, muscle, and bones. Summarized here are many 020-0779-4 examples of the different presentations in males and females. Other INTRODUCTION SEX DIFFERENCES ARE DUE TO X-INACTIVATION Sex differences in human disease are usually attributed to The sex differences in the effect of X-linked pathologic variants sex specific life experiences, and sex hormones that is due to our method of X chromosome dosage compensation, influence the function of susceptible genes throughout the called X-inactivation;9 humans and most placental mammals – genome.1 5 Such factors do account for some dissimilarities. compensate for the sex difference in number of X chromosomes However, a major cause of sex-determined expression of (that is, XX females versus XY males) by transcribing only one disease has to do with differences in how males and females of the two female X chromosomes. X-inactivation silences all X transcribe their gene-rich human X chromosomes, which is chromosomes but one; therefore, both males and females have a often underappreciated as a cause of sex differences in single active X.10,11 disease.6 Males are the usual ones affected by X-linked For 46 XY males, that X is the only one they have; it always pathogenic variants.6 Females are biologically superior; a comes from their mother, as fathers contribute their Y female usually has no disease, or much less severe disease chromosome. -
Part II. Melanoma, Seborrheic Keratoses, Acanthosis Nigricans, Melasma, Diabetic Dermopathy, Tinea Versicolor, and Postinflammatory Hyperpigmentation DANIEL L
CARING FOR COMMON SKIN CONDITIONS Common Hyperpigmentation Disorders in Adults: Part II. Melanoma, Seborrheic Keratoses, Acanthosis Nigricans, Melasma, Diabetic Dermopathy, Tinea Versicolor, and Postinflammatory Hyperpigmentation DANIEL L. STULBERG, M.D., and NICOLE CLARK, M.D., Utah Valley Family Practice Residency Program, Provo, Utah DANIEL TOVEY, M.D., Intermountain Health Care Health Center, Springville, Utah Nevi, or moles, are localized nevocytic tumors. The American Cancer Society’s “ABCD” rules are useful for differentiating a benign nevus from malignant melanoma. While acanthosis nigricans may signal an underlying malignancy (e.g., gastrointestinal tumor), it more often is associated with insulin resistance (type 2 diabetes, polycystic ovary syndrome) or obesity. Melasma is a facial hyperpigmentation resulting from the stimulation of melanocytes by endogenous or exogenous estrogen. Treatments for melasma include bleaching agents, laser therapy, and a new medication that combines hydroquinone, tretinoin, and fluocinolone acetonide. Lesions that develop on the shins of patients with diabetic dermopathy often resolve spontaneously; no treatment is effective or recommended. Tinea versicolor responds to treatment with selenium sulfide shampoo and topical or oral antifungal agents. Postinflammatory hyperpigmenta- tion or hypopigmentation can occur in persons of any age after trauma, skin irritation, or dermatoses. (Am Fam Physician 2003;68:1963-8. Copyright© 2003 American Academy of Family Physicians.) This is part II of a two- yperpigmentation usually can part article on hyper- be traced to the presence and pigmentation in adults. activity of melanocytes. Part I Part I, “Diagnostic Approach, Café au Lait of this two-part article pre- Macules, Diffuse sents a suggested approach to Hyperpigmentation, Hpatients with increased pigmentation.