Mutation and Expression of Abca12in Keratosis Pilaris and Nevus
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Keratosis Follicularis Spinulosa Decalvans in a Female Child- a Rare Presentation Chowdhury J1, Ghoshal L2, Bannerjee S3
Bangladesh Journal of Medical Science Vol. 16 No. 04 October’17 Case report: Keratosis Follicularis Spinulosa Decalvans in a female child- a rare presentation Chowdhury J1, Ghoshal L2, Bannerjee S3 Abstract: Congenital alopecia universalis is a very rare presentation. A 6 year old girl came to us with total alopecia and multiple horny keratosis pilaris like skin lesions all over the body. The alopecia was mostly non-scarring with a few patches of scarring over the scalp. Histology from scalp revealed follicular plugging with perifollicular infiltrate of lymphocytes and plasma cells. The case was diagnosed as Keratosis follicularis spinulosa decalvans. This is very rare and even rarer in females. Keywords: keratosis pilaris; scarring alopecia; non-scarring alopecia Bangladesh Journal of Medical Science Vol. 16 No. 04 October’17. Page : 591-593 Introduction: Keratosis follicularis spinulosa Except a few brittle hairs on the crown area hair was decalvans is a rare genodermatosis that affects absent all over the scalp, eyelids and body. There predominantly males. It appears in infancy or were a few small patches of non-scarring alopecia childhood, and is characterized by diffuse follicular over the scalp [Figure 3]. keratotic papules associated with progressive Palms, soles, nail and mucosa were unaffected. cicatricial alopecia of the scalp, eyebrows and Family history was unremarkable with no history eyelashes. Family history is often positive. We report of consanguinity. Her twin sister was unaffected. a case of KFSD in a female child. There was no history of photophobia, no evidence Case-report: A 6 year old girl presented with of physical or mental retardation. -
Bilateral Lower Extremity Hyperkeratotic Plaques: a Case Report of Ichthyosis Vulgaris
Faculty & Staff Scholarship 2015 Bilateral lower extremity hyperkeratotic plaques: a case report of ichthyosis vulgaris Hayley Leight Zachary Zinn Omid Jalali Follow this and additional works at: https://researchrepository.wvu.edu/faculty_publications Clinical, Cosmetic and Investigational Dermatology Dovepress open access to scientific and medical research Open Access Full Text Article CASE REPORT Bilateral lower extremity hyperkeratotic plaques: a case report of ichthyosis vulgaris Hayley Leight Abstract: Here, we report a case of a middle-aged woman presenting with severe, long-standing, Zachary Zinn hyperkeratotic plaques of the lower extremities unrelieved by over-the-counter medications. Omid Jalali Initial history and clinical findings were suggestive of an inherited ichthyosis. Ichthyoses are genetic disorders characterized by dry scaly skin and altered skin-barrier function. A diagnosis Department of Dermatology, West Virginia University, of ichthyosis vulgaris was confirmed by histopathology. Etiology, prevalence, and treatment Morgantown, WV, USA options are discussed. Keywords: filaggrin gene, FLG, profilaggrin, keratohyalin granules, hyperkeratosis Introduction For personal use only. Inherited ichthyoses are a diverse group of genetic disorders characterized by dry, scaly skin; hyperkeratosis; and altered skin-barrier function. While these disorders of cutaneous keratinization are multifaceted and varying in etiology, disruption in the stratum corneum with generalized scaling is common to all.1–4 Although not entirely known -
Pediatric and Adolescent Dermatology
Pediatric and adolescent dermatology Management and referral guidelines ICD-10 guide • Acne: L70.0 acne vulgaris; L70.1 acne conglobata; • Molluscum contagiosum: B08.1 L70.4 infantile acne; L70.5 acne excoriae; L70.8 • Nevi (moles): Start with D22 and rest depends other acne; or L70.9 acne unspecified on site • Alopecia areata: L63 alopecia; L63.0 alopecia • Onychomycosis (nail fungus): B35.1 (capitis) totalis; L63.1 alopecia universalis; L63.8 other alopecia areata; or L63.9 alopecia areata • Psoriasis: L40.0 plaque; L40.1 generalized unspecified pustular psoriasis; L40.3 palmoplantar pustulosis; L40.4 guttate; L40.54 psoriatic juvenile • Atopic dermatitis (eczema): L20.82 flexural; arthropathy; L40.8 other psoriasis; or L40.9 L20.83 infantile; L20.89 other atopic dermatitis; or psoriasis unspecified L20.9 atopic dermatitis unspecified • Scabies: B86 • Hemangioma of infancy: D18 hemangioma and lymphangioma any site; D18.0 hemangioma; • Seborrheic dermatitis: L21.0 capitis; L21.1 infantile; D18.00 hemangioma unspecified site; D18.01 L21.8 other seborrheic dermatitis; or L21.9 hemangioma of skin and subcutaneous tissue; seborrheic dermatitis unspecified D18.02 hemangioma of intracranial structures; • Tinea capitis: B35.0 D18.03 hemangioma of intraabdominal structures; or D18.09 hemangioma of other sites • Tinea versicolor: B36.0 • Hyperhidrosis: R61 generalized hyperhidrosis; • Vitiligo: L80 L74.5 focal hyperhidrosis; L74.51 primary focal • Warts: B07.0 verruca plantaris; B07.8 verruca hyperhidrosis, rest depends on site; L74.52 vulgaris (common warts); B07.9 viral wart secondary focal hyperhidrosis unspecified; or A63.0 anogenital warts • Keratosis pilaris: L85.8 other specified epidermal thickening 1 Acne Treatment basics • Tretinoin 0.025% or 0.05% cream • Education: Medications often take weeks to work AND and the patient’s skin may get “worse” (dry and red) • Clindamycin-benzoyl peroxide 1%-5% gel in the before it gets better. -
Download PDF (Inglês)
Revista6Vol89ingles_Layout 1 10/10/14 11:08 AM Página 1003 WHAT IS YOUR DIAGNOSIS? 1003 s Case for diagnosis* João Roberto Antonio1 Larissa Cannizza Pacheco de Lucca1 Mariana Perez Borim1 Natália Cristina Pires Rossi1 Guilherme Bueno de Oliveira1 DOI: http://dx.doi.org/10.1590/abd1806-4841.20143156 CASE REPORT A 60-year-old woman reports a 5-year history of violaceous and intensely pruritic lesions on the dorsum and scalp, associated with a 2-year history of hair loss. She also reports decreased hair growth in the axillary and inguinal regions in the same period. Dermatological examination shows small, scaly, erythematous-violaceous, flat papules on the dorsal region; multifocal scarring alopecia areas, with smooth, bright and atrophic surface; discrete hair rarefaction in the axillary and inguinal regions; presence of longitu- FIGURE 2: dinal grooves and some depressions on the surface of Perifollicular the nail plate; no oral lesions (Figures 1 and 2). The erythema with desquamation at histopathology of the dorsal lesion is shown in figure the vertex of the 3A and that of the scalp is shown in figure 3B. scalp; cicatricial The treatment was performed using high- alopecia and potency corticoids and resulted, after three months, in smooth, bright and atrophic surface an improvement of pruritus and a slight lightening of the lesions. A FIGURE 1: B Cutaneous, erythematous- FIGURE 3: A. HE 200x. Interface dermatitis with lichenoid pattern purpuric lesions associated with dermo-epidermic detachment and lymphocytic on the infiltrate in band-like pattern in the upper dermis. B. HE 200x. dorsal region Detail of partially destroyed follicle, with perifollicular fibrosis and perivascular lymphocytic infiltrate Received on 19.09.2013. -
Graft Versus Host Disease and How to Report It
Graft versus Host Disease and how to report it Daniel Weisdorf MD University of Minnesota Transplant Events Day-8 0 1mo 3mo 6mo Conditioning HSCT Engraftment Mucositis Organ toxicity (VOD) Acute GVHD Chronic GVHD Infections Bacterial ----CMV---- Varicella----- --Fungus--------- Transplant Events Day-8 0 1mo 3mo 6mo Conditioning HSCT Engraftment Mucositis Organ toxicity (VOD) Acute GVHD Chronic GVHD Infections Bacterial ----CMV---- Varicella----- --Fungus--------- 1 Acute GVHD Chronic GVHD Skin: Lichen planus, Hyper/ hypo pigmentation, Dermatitis ichthyosis, onychodystrophy, morphea, + scleroderma, hair changes. Hepatitis Oral: sicca, atrophy, lichenoid, + Hyperkeratosis GI: wasting, dysphagia, Enteritis odynophagia, strictures Eye: keratoconjunctivitis sicca Lungs: Bronchiolitis obliterans Others: myofascial, genital Acute GVHD Chronic GVHD Dermatitis Rash + Hepatitis High bilirubin + Enteritis Nausea/vomiting/ diarrhea Acute GVHD Chronic GVHD Skin: Lichen planus, Scaly abnormal pigmentation, Dry skin, onychodystrophy, abnormal nails scleroderma, thick skin hair changes. Oral: sicca, atrophy, lichenoid, Dry mouth GI: wasting, dysphagia, Weight loss odynophagia, trouble swallowing Eye: keratoconjunctivitis sicca Dry eyes Lungs: Bronchiolitis obliterans Obstruction Others: myofascial, muscle stiffness Genital vaginal narrowing 2 Graft vs. Leukemia Effect • Less leukemia relapse follows more GVHD • Acute and particularly Chronic GVHD limit relapse Risk Factors for GVHD Acute GVHD Chronic GVHD Increased risk Increased risk HLA mismatch Older -
Erythrokeratodermia Variabilis Et Progressiva Allelic to Oculo-Dento
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector COMMENTARY See related article on pg 1540 translocated into the plasma membrane. Once expressed on the cell surface, the hemichannel docks with a connexon of an adjacent cell to form a channel that Erythrokeratodermia Variabilis et is termed gap junction. Connexons can form either homotypic (docking of two Progressiva Allelic to Oculo-Dento- identical connexons), heterotypic (docking of two dissimilar homomeric Digital Dysplasia connexons), or heteromeric (docking of two heteromeric connexons) channels Sabine Duchatelet1,2 and Alain Hovnanian1,2,3 (Mese et al., 2007). These diverse Erythrokeratodermia variabilis et progressiva (EKVP) is a genodermatosis with combinations of connexins create clinical and genetic heterogeneity, most often transmitted in an autosomal different types of channels, each having dominant manner, caused by mutations in GJB3 and GJB4 genes encoding unique properties (ionic conductance, connexins (Cx)31 and 30.3, respectively. In this issue, Boyden et al. (2015) report permeability, sensitivity to voltage, or for the first time de novo dominant mutations in GJA1 encoding the ubiquitous pH). Of note, several connexins may also Cx43 in patients with EKVP. These results expand the genetic heterogeneity of form functional nonjunctional hemi- EKVP and the human disease phenotypes associated with GJA1 mutations. They channels, although their physiological disclose that EKVP is allelic to oculo-dento-digital dysplasia, a rare syndrome relevance remains uncertain (Pfenniger previously known to be caused by dominant GJA1 mutations. et al., 2010). Mutations in 11 connexin genes cause a variety of genetic dis- Journal of Investigative Dermatology (2015) 135, 1475–1478. -
COVID-19 and RARE SKIN DISEASES
COVID-19 and RARE SKIN DISEASES Newsletter n°4, 8th June 2021 Dear all, We hope that this letter finds you well! Thank you to those who have included patients and collected the data! We would like to remind you to complete the online eCRF via the link you have received. If you any have any issues don’t hesitate to contact us. Please note that, since the pandemic is still continuing, the study has been expanded for one year. The monitoring is ongoing and the queries will be sent regularly. If needed, the sites will be contacted to discuss and validate the answers, and check if the study is proceeding well. 64 patients are included in the study: 5 in Germany, 6 in Czech Republic, 8 in Italy, 11 in Lithuania and 34 in France. The diseases concerned are the following: Bullous pemphigoid (9/64), Recessive dystrophic Epidermolysis bullosa (9/64), Dominant dystrophic Epidermolysis bullosa (8/64), Epidermolysis bullosa (7/64), Hidradenitis suppurativa (7/64), X-linked hypohidrotic ectodermal dysplasia (4/64), Lamellar ichtyosis (2/64) and Incontinentia pigmenti (2/64). The other diseases are presented each by 1 patient: Pemphigus vulgaris, Pemphigus foliaceous, Mucous membrane pemphigoid, IgA Linear Dermatosis, Dermatitis herpetiformis, Kindler Epidermolysis bullosa, Kerathinopathic ichthyosis, Darier disease, Linear morphea, Cloves syndrome, Microcystic lymphatic malformation, Hemihypertrophy (Overgrowth syndrome), Adamantiades - Behçet's disease, Hailey Hailey disease, Pityriasis rubra pilaris and Neurofibromatosis type 1 (Figure 1 below). 10 Figure 1: Type of Rare skin diseases 5 0 A large majority of patients visited a hospital physician (42%: 27/64), 28% visited a General practitioner (18/64) and 23% consulted a physician remotely (15/64). -
Cosmetic Center May Newsletter
Cosmetic Center May Newsletter DERMATOLOGY ASSOCIATES Keratosis Pilaris May specials “KP” Very common 10 % off Sunscreen skin condition characterized by 10% off Glytone KP Products tiny, hard 20% off Laser Hair Removal bumps. Glytone and Neostrata Peels– Purchase a package of 6 and get 1 Free It can be found on the outer Purchase a Facial and Receive a Free Skin Care Starter Kit arms, thighs, and sometimes Product of the Month Procedure of the Month the buttocks Tilley Hats Facials It is caused by the buildup of Lifetime Warranty Schedule an appointment today for dead skin Waterproof & Float an hour of pampering and (keratin) around relaxation. We will use products Many Different Sizes, Styles, and the hair follicle. suitable for your skin type and Colors to Choose From KP generally condition. gets worse in the SPF 50 winter and often clears in the summer. KP is self-limiting and disappears with age. KP can be treated with products. Mother’s Day is May 10 We have several products in the Relaxing Facials & Gift Certificates make great gifts! Cosmetic Center Mini Facials for the month of May only $45 to treat and help You can also shop ONLINE at Kingsportderm.com and have the items shipped. Melanoma Awareness Month More than 1 million cases of skin cancer are diagnosed in the United States each year, making skin cancer the most common cancer in the United States. ABCDEs of Melanoma Approximately 62,480 cases of melanoma will be A. If you draw a line diagnosed each year, nearly 8,420 cases will lead to deaths. -
A New Insight on Atopic Skin Diathesis: Is It Correlated with the Severity of Melasma
A New Insight on Atopic Skin Diathesis: Is It Correlated with the Severity of Melasma Danar Wicaksono1*, Rima Mustafa2, Sri Awalia Febriana1, Kristiana Etnawati1 1 Dermatovenereology Department, Faculty of Medicine Universitas Gadjah Mada – Dr. Sardjito General Hospital, Yogyakarta-Indonesia 2 Clinical Epidemiology and Biostatistics Unit, Faculty of Medicine Universitas Gadjah Mada –Dr. Sardjito General Hospital, Yogyakarta-Indonesia Keywords: Melasma, atopic skin diathesis (ASD), MASI score, atopic dermatitis (AD) Abstract: Melasma is a macular lesion of light brown to dark on the sun-exposed area, especially on the face. Atopic Skin Diathesis (ASD) is a clinical term to describe skin atopics with previous, present or future atopic dermatitis (AD). Dennie-Morgan infraorbital folds are secondary creases in the skin below the lower eyelids with a sensitivity of 78% and a specificity of 76% to diagnose AD. Melasma skin is characterized by impaired stratum corneum integrity and a delayed barrier recovery rate. Barrier dysfunction will stimulate keratinocyte to secrete keratinocyte-derived factor, which plays role in skin pigmentation process in melasma. To analyze correlation between ASD and Melasma Area Severity Index (MASI) score in melasma patient. This study is an observational analytic study with cross sectional design. Measurement of ASD and MASI score were done in 60 subjects with melasma who went to dermatology outpatient clinic Dr. Sardjito General Hospital from July 2017 to Januari 2018. The correlation between ASD and MASI score was analyzed using Pearson correlation. The result of this study showed no significant correlation between ASD and MASI scores (r: 0.02, p: 0,85). Crude Relative Risk (RR) for Dennie-Morgan infraorbital folds and MASI score was 4 (1.01-15.87). -
Lymphatic Complaints in the Dermatology Clinic: an Osteopathic
Volume 35 JAOCDJournal Of The American Osteopathic College Of Dermatology Lymphatic Complaints in the Dermatology Clinic: An Osteopathic Approach to Management A five-minute treatment module makes lymphatic OMT a practical option in busy practices. Also in this issue: A Case of Acquired Port-Wine Stain (Fegeler Syndrome) Non-Pharmacologic Interventions in the Prevention of Pediatric Atopic Dermatitis: What the Evidence Says Inflammatory Linear Verrucous Epidermal Nevus Worsening in Pregnancy last modified on June 9, 2016 10:54 AM JOURNAL OF THE AMERICAN OSTEOPATHIC COLLEGE OF DERMATOLOGY Page 1 JOURNAL OF THE AMERICAN OSTEOPATHIC COLLEGE OF DERMATOLOGY 2015-2016 AOCD OFFICERS PRESIDENT Alpesh Desai, DO, FAOCD PRESIDENT-ELECT Karthik Krishnamurthy, DO, FAOCD FIRST VICE-PRESIDENT Daniel Ladd, DO, FAOCD SECOND VICE-PRESIDENT John P. Minni, DO, FAOCD Editor-in-Chief THIRD VICE-PRESIDENT Reagan Anderson, DO, FAOCD Karthik Krishnamurthy, DO SECRETARY-TREASURER Steven Grekin, DO, FAOCD Assistant Editor TRUSTEES Julia Layton, MFA Danica Alexander, DO, FAOCD (2015-2018) Michael Whitworth, DO, FAOCD (2013-2016) Tracy Favreau, DO, FAOCD (2013-2016) David Cleaver, DO, FAOCD (2014-2017) Amy Spizuoco, DO, FAOCD (2014-2017) Peter Saitta, DO, FAOCD (2015-2018) Immediate Past-President Rick Lin, DO, FAOCD EEC Representatives James Bernard, DO, FAOCD Michael Scott, DO, FAOCD Finance Committee Representative Donald Tillman, DO, FAOCD AOBD Representative Michael J. Scott, DO, FAOCD Executive Director Marsha A. Wise, BS AOCD • 2902 N. Baltimore St. • Kirksville, MO 63501 800-449-2623 • FAX: 660-627-2623 • www.aocd.org COPYRIGHT AND PERMISSION: Written permission must be obtained from the Journal of the American Osteopathic College of Dermatology for copying or reprinting text of more than half a page, tables or figures. -
Epidermolytic Hyperkeratosis with Ichthyosis Hystrix Geromanta Baleviciené, MD, Vilnius, Lithuania Robert A
pediatric dermatology Series Editor: Camila K. Janniger, MD, Newark, New Jersey Epidermolytic Hyperkeratosis With Ichthyosis Hystrix Geromanta Baleviciené, MD, Vilnius, Lithuania Robert A. Schwartz, MD, MPH, Newark, New Jersey Epidermolytic hyperkeratosis (EH) is a congenital, autosomal-dominant genodermatosis characterized by blisters.1,2 Shortly after birth, the infant’s skin becomes red and may show bullae. The erythema regresses, but brown verrucous hyperkeratosis persists, particularly accentuated in the flexures. This condition is also known as bullous ichthyosiform erythroderma. The disorder of keratinization has varied clinical manifestations in the extent of cutaneous involve- ment, palmar and plantar hyperkeratosis, and evi- dence of erythroderma. We describe 5 patients, 4 with EH (one of whom had it in localized form and one of whom had an unusual type of ichthyosis hystrix described by Curth and Macklin3-7). Case Reports FIGURE 1. Seven-year-old girl with EH, demonstrating Patient 1—A 7-year-old girl with a cutaneous erup- erythema and verrucous hyperkeratosis (Patient 1). tion since birth characterized by flaccid bullae vary- ing in size. The palms and soles had intense diffuse keratosis from 1 year of age. Her nails, hair, teeth, and mental state were normal. The patient’s mother (Pa- tient 2) had a similar disorder. Skin biopsy specimens showed the changes of EH, with pronounced cellular vacuolation of the middle and upper portions of the malpighian stratum and large, clear, irregular spaces. Cellular boundaries were indistinct. A thickened granular layer was evident with large, irregularly shaped keratohyalin granules. Ultrastructural study showed tonofilament clumping of the malpighian layer and cytolysis. -
Expression of Loricrin in Oral Submucous Fibrosis, Hyperkeratosis and Normal Mucosa: an Immunohistochemical Study
EXPRESSION OF LORICRIN IN ORAL SUBMUCOUS FIBROSIS, HYPERKERATOSIS AND NORMAL MUCOSA: AN IMMUNOHISTOCHEMICAL STUDY Dissertation submitted to THE TAMILNADU Dr.M.G.R.MEDICAL UNIVERSITY In partial fulfillment for the Degree of MASTER OF DENTAL SURGERY BRANCH VI ORAL PATHOLOGY AND MICROBIOLOGY APRIL 2013 Acknowledgement It is not every day that we get to thank all those who really matter to us, and acknowledging this brings joy and pride so deep that it makes me feel whole and cherished .I would want to thank God foremost for his benevolence and love for making it possible, for every breath, every thought and every walk of life is filled with his goodness I would like to express my deep gratitude and reverence to my post graduate teacher and mentor Dr. K. Ranganathan, MDS, MS (Ohio), Ph.D, Professor and Head, Department of Oral and maxillofacial pathology, Ragas Dental College and Hospital for his valuable guidance, constant support and encouragement throughout my dissertation. His penchant for perfection in all things had been a beacon guiding us in our study. My sincere thanks to Dr. Umadevi K. Rao, Professor, Department of Oral and maxillofacial pathology Ragas Dental College and Hospital for her constant support, motivation to learn and encouragement in times of trials throughout my study. I extend my heartfelt gratitude to my Guide and Professor Dr. Elizabeth Joshua, Department of Oral and maxillofacial pathology Ragas Dental College and Hospital for her constant guidance, support, tons of patience and endearing words of advice to explore all aspects in the completion of my work. I earnestly thank Professor, Dr.