Aquagenic Syringeal Acrokeratoderma
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
Idiopathic Spiny Keratoderma: a Report of Two Cases and Literature Review
Idiopathic Spiny Keratoderma: A Report of Two Cases and Literature Review Jessica Schweitzer, DO,* Matthew Koehler, DO,** David Horowitz, DO*** *Intern, Largo Medical Center, Largo, FL **Dermatology Resident, Third Year, College Medical Center/Western University, Long Beach, CA ***Dermatology Residency Program Director, College Medical Center/Western University, Long Beach, CA Abstract Spiny keratoderma is a rare and likely underreported condition that presents with punctate hyperkeratotic growths localized to the palms and soles. We present two cases of clinically diagnosed spiny keratoderma. Although the lesions were asymptomatic, patients are at risk of an underlying internal malignancy with this condition, so diagnosis is crucial. Neither men were seeking treatment for the lesions when they were discovered, suggesting that this condition may be much more common than reported. Patients with histories of manual labor, increased UV exposure, and non-melanoma skin cancer (NMSC) may also be at higher risk for developing spiny keratoderma.1 The epidemiology, histopathologic features, differential diagnosis, and current treatments for spiny keratoderma are reviewed. Introduction Case 2 enthusiast for his entire life, spending significant Spiny keratoderma is a rare palmoplantar A 67-year-old Caucasian male presented with a time using his hands to maintain and fire his keratoderma that presents with keratotic, pinpoint one-year history of insidiously growing, pinpoint weapons and many hours outside without sun papules on the palms and soles. There are both hyperkeratotic papules projecting from his palms protection. The patient was referred back to his hereditary and acquired forms. When found, bilaterally (Figures 4-5). He presented to the clinic primary care physician for internal evaluation. -
Living with Mast Cell Activation Syndrome
Anne Maitland, MD, PhD Living with Medical Director, Comprehensive Allergy Mast Cell & Asthma Care Activation Asst Professor, Dept of Medicine – Clinical Immunology Syndrome Icahn School of Medicine at Mt Sinai, New York Got MCAS? Mast Cell mediated disorders are common u 1 out of 2 of us are coping with some chronic immune mediated disorder. o ‘allergies’(rhinitis), sinus infections, hives (urticaria),food allergy/intolerance, skin swelling (angioedema), Anaphylaxis Signs and Symptoms eczema (atopic dermatitis and contact dermatitis), asthma issues, and the prototype of immediate hypersensitivity syndromes, anaphylaxis Why the rise in hypersensitivity disorders? Our genes in this environment! The human race has come to dominate its environment so completely that any analysis of the increase or appearance of a disease has to take changes in our lifestyle into account. In the case of allergic disease [hypersensitivity disorders] changes in our environment, diet, water quality, and personal behavior over the last 150 years have played a dominant role in the specificity of these diseases, as well as in prevalence and severity… it is clear that the consequences of hygiene, indoor entertainment, and changes in diet or physical activity have never been predicted. Thomas A. E. Platts-Mills, MD, PhD, FRS, The allergy epidemics: 1870-2010; J Allergy Clin Immunol 2015;136:3-13. Why? Trauma Stress Infection Connective Tissue Chemical Disorder exposure PIDD -manufactured Autoimmune Dz. -mold, Mastocytosis mycotoxins Hypertryptasemia (naturally Atopic Disorders occuring) Mast cell activation syndrome is easily treated, if it's But most patients with recognized MCAD suffer for Patients with mast cell activation syndrome (MCAS) frequently go for years without an accurate diagnosis… Harding, Reuters Health-New York, 2011 years… It is very common for one hypersensitivity condition to progress/morph into another, be provoked by more triggers. -
Ectodermal Dysplasias: a New Clinical-Genetic Classification
J Med Genet 2001;38:579–585 579 Ectodermal dysplasias: a new clinical-genetic J Med Genet: first published as 10.1136/jmg.38.9.579 on 1 September 2001. Downloaded from classification Manuela Priolo, Carmelo Laganà Abstract many case reports and personal communica- The ectodermal dysplasias (EDs) are a tions in their listing of EDs, as well as large and complex nosological group of conditions traditionally classified under other diseases, first described by Thurnam in headings, for example dyskeratosis congenita11 1848. In the last 10 years more than 170 and keratitis-ichthyosis-deafness (KID) syn- diVerent pathological clinical conditions drome12 (poikiloderma and immune defect have been recognised and defined as EDs, diseases and erythrokeratodermas, respec- all sharing in common anomalies of the tively). Further, they did not appear to hair, teeth, nails, and sweat glands. Many consider variability of expression and may are associated with anomalies in other have reported, as distinct diseases, conditions organs and systems and, in some condi- that reflect variable expression of the same tions, with mental retardation. pathological entity. Moreover, they included The anomalies aVecting the epidermis pathological conditions which, in our opinion, and epidermal appendages are extremely do not strictly fulfil the diagnostic criteria for variable and clinical overlap is present EDs, such as conditions with secondary among the majority of EDs. Most EDs are involvement of epidermal derivatives rather defined by particular clinical signs (for than a primary defect. We abandoned the 1-2- example, eyelid adhesion in AEC syn- 3-4 designation of EDs, because we believe drome, ectrodactyly in EEC). -
Benign Fibro-Osseous Lesions Plus…
“Vision is the art of seeing things invisible.” Jonathan Swift 1667 - 1745 Benign Fibro-osseous Lesions Plus… Steven R. Singer, DDS [email protected] 212.305.5674 Benign Fibro-osseous Lesions Fibrous Dysplasia A group of lesions in which normal bone is Localized change in bone metabolism replaced initially by fibrous connective tissue Normal cancellous bone is replaced by Over time, the lesion is infiltrated by osteoid fibrous connective tissue and cementoid tissue The connective tissue contains varying amounts of abnormal bone with irregular This is a benign and idiopathic process trabeculae Trabeculae are randomly oriented. (Remember that normal trabeculae are aligned to respond to stress) Fibrous Dysplasia Fibrous Dysplasia Lesions may be solitary (monostotic) or Fibrous dysplasia is non-hereditary involve more than one bone (polyostotic) Caused by a mutation in a somatic cell. Monostotic form accounts for 70% of all Extent of lesions depends on the timing of cases the mutation. Polyostotic form is more common in the first If the mutation occurs earlier, the disease decade will be more widespread throughout the M=F except in McCune-Albright syndrome, body. An example is McCune-Albright which is almost exclusively found in females Syndrome 1 Fibrous Dysplasia Fibrous Dysplasia McCune-Albright Syndrome • Monostotic and polyostotic forms usually -Almost exclusively begins in the second decade of life females -Polyostotic fibrous • Slow, painless expansion of the jaws dysplasia • Patients may complain of swelling or have -
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 -
Palmoplantar Keratoderma with Progressive Gingivitis and Recurrent Pyodermas
Palmoplantar Keratoderma With Progressive Gingivitis and Recurrent Pyodermas Tyler A. Moss, DO; Anne P. Spillane, MD; Sam F. Almquist, MD; Patrick E. McCleskey, MD; Oliver J. Wisco, DO Practice Points Papillon-Lefèvre syndrome (PLS) is an autosomal-recessive inherited transgredient palmoplantar kerato- derma (PPK) that is associated with gingivitis and recurrent pyodermas. The symptoms associated with PLS are thought to be due to cathepsin C gene, CTSC, mutations. CTSC is expressed in epithelial regions commonly affected by PLS and also plays a role in the activation of immune and inflammatory responses. Papillon-Lefèvre syndrome must be differentiated from other conditions causing PPK, such as Haim-Munk syndrome, Greither syndrome, mal de Meleda, Clouston syndrome, Vohwinkel syndrome, and Olmsted syndrome. Treatment of PLS includesCUTIS keratolytics such as urea and/or salicylic acid comb ined with oral retinoids. Active gingivitis may be treated with combined use of amoxicillin and metronidazole. Papillon-Lefèvre syndrome (PLS) is a rare inher- Case Report ited palmoplantar keratoderma (PPK) that is asso- A 30-year-old woman presented to the dermatology ciated with progressive gingivitis and recurrent clinic with erythematous hyperkeratotic plaques on pyodermas.Do We present a caseNot exhibiting classic the palmsCopy and soles. The plaques extended onto features of this autosomal-recessive condition the dorsal aspects of the fingers, toes, hands, and and review the current understanding of its patho- feet (Figures 1 and 2). The patient had psoriasiform physiology, diagnosis, and treatment. Addition- plaques on the extensor surfaces of the knees and ally, a review of pertinent transgredient PPKs is elbows (Figure 3) along with a history of slow- undertaken, with key and distinguishing features progressing gingivitis and periodontal disease that of each syndrome highlighted. -
PROPOSED REGULATION of the STATE BOARD of HEALTH LCB File No. R057-16
PROPOSED REGULATION OF THE STATE BOARD OF HEALTH LCB File No. R057-16 Section 1. Chapter 457 of NAC is hereby amended by adding thereto the following provision: 1. The Division may impose an administrative penalty of $5,000 against any person or organization who is responsible for reporting information on cancer who violates the provisions of NRS 457. 230 and 457.250. 2. The Division shall give notice in the manner set forth in NAC 439.345 before imposing any administrative penalty 3. Any person or organization upon whom the Division imposes an administrative penalty pursuant to this section may appeal the action pursuant to the procedures set forth in NAC 439.300 to 439. 395, inclusive. Section 2. NAC 457.010 is here by amended to read as follows: As used in NAC 457.010 to 457.150, inclusive, unless the context otherwise requires: 1. “Cancer” has the meaning ascribed to it in NRS 457.020. 2. “Division” means the Division of Public and Behavioral Health of the Department of Health and Human Services. 3. “Health care facility” has the meaning ascribed to it in NRS 457.020. 4. “[Malignant neoplasm” means a virulent or potentially virulent tumor, regardless of the tissue of origin. [4] “Medical laboratory” has the meaning ascribed to it in NRS 652.060. 5. “Neoplasm” means a virulent or potentially virulent tumor, regardless of the tissue of origin. 6. “[Physician] Provider of health care” means a [physician] provider of health care licensed pursuant to chapter [630 or 633] 629.031 of NRS. 7. “Registry” means the office in which the Chief Medical Officer conducts the program for reporting information on cancer and maintains records containing that information. -
Skin Brief Articles
SKIN BRIEF ARTICLES Nab-paclitaxel/gemcitabine Induced Acquired Ichthyosis Adriana Lopez BAa, Joel Shugar MDb, and Mark Lebwohl MDc aColumbia University Vagelos College of Physicians and Surgeons, New York, NY bIcahn School of Medicine at Mount Sinai, Department of Otolaryngology, New York, NY cIcahn School of Medicine at Mount Sinai, Department of Dermatology, New York, NY ABSTRACT The ichthyoses are a diverse group of cutaneous disorders characterized by abnormalities in cornification. The majority of ichthyoses are inherited with childhood presentation and new onset ichthyosis in adulthood warrants further medical evaluation. Though most well recognized for its association with Hodgkin’s disease, acquired ichthyosis (AI) has been linked to a number of inflammatory, autoimmune, and endocrine processes. However, drug- induced AI is exceedingly rare and remains a poorly understood entity. Here we report a case of a male patient who developed AI while receiving nab-paclitaxel plus gemcitabine for treatment of pancreatic adenocarcinoma. months prior, the patient was first seen for INTRODUCTION recurrent, self-healing, pruritic erythematous Acquired ichythyosis (AI) is an uncommon papules. Punch biopsy was performed which non-inherited cutaneous disorder of showed an atypical cellular infiltrate of abnormal keratinization that is most scattered large CD30+ cells with clonal T-cell frequently associated with underlying receptor-β gene rearrangement. Though the malignancy. Drug induced AI is uncommon clinicopathologic diagnosis was most and has been rarely linked to consistent with lymphomatoid papulosis chemotherapeutic agents. Herein, we report (LyP), imaging was pursued to exclude the case of a man with pancreatic extracutaneous lymphoproliferative disease. adenocarcinoma who developed an CT scan incidentally detected a mass in the ichthyosiform eruption upon starting body of the pancreas and biopsy was chemotherapy with nab-paclitaxel plus concordant with pancreatic adenocarcinoma. -
Phenotypic and Genotypic Characterisation of Noonan-Like
1of5 ELECTRONIC LETTER J Med Genet: first published as 10.1136/jmg.2004.024091 on 2 February 2005. Downloaded from Phenotypic and genotypic characterisation of Noonan-like/ multiple giant cell lesion syndrome J S Lee, M Tartaglia, B D Gelb, K Fridrich, S Sachs, C A Stratakis, M Muenke, P G Robey, M T Collins, A Slavotinek ............................................................................................................................... J Med Genet 2005;42:e11 (http://www.jmedgenet.com/cgi/content/full/42/2/e11). doi: 10.1136/jmg.2004.024091 oonan-like/multiple giant cell lesion syndrome (NL/ MGCLS; OMIM 163955) is a rare condition1–3 with Key points Nphenotypic overlap with Noonan’s syndrome (OMIM 163950) and cherubism (OMIM 118400) (table 1). N Noonan-like/multiple giant cell lesion syndrome (NL/ Recently, missense mutations in the PTPN11 gene on MGCLS) has clinical similarities with Noonan’s syn- chromosome 12q24.1 have been identified as the cause of drome and cherubism. It is unclear whether it is a Noonan’s syndrome in 45% of familial and sporadic cases,45 distinct entity or a variant of Noonan’s syndrome or indicating genetic heterogeneity within the syndrome. In the cherubism. 5 study by Tartaglia et al, there was a family in which three N Three unrelated patients with NL/MGCLS were char- members had features of Noonan’s syndrome; two of these acterised, two of whom were found to have mutations had incidental mandibular giant cell lesions.3 All three in the PTPN11 gene, the mutation found in 45% of members were found to have a PTPN11 mutation known to patients with Noonan’s syndrome. -
Palmoplantar Keratoderma: Rare Case Report
Case Report Journal of Volume 12:4, 2021 Cytology & Histology ISSN: 2157-7099 Open Access Palmoplantar Keratoderma: Rare Case Report Dr. Ayushi Bansal1, Dr. Hemlata Munde2*, Dr. Munish Gupta3 and Dr. Santosh Munde4 1Senior Resident, Department of Pathology, Kalpana Chawla Government Medical College, Karnal, Haryana, India. 2Professor and Head of Department of Pathology, Kalpana Chawla Government Medical College, Karnal, Haryana, India. 3Assistant Professor, Department of medicine, Kalpana Chawla Government Medical College, Karnal, Haryana, India. 4Professor and Head of Department of Orthopaedics, Kalpana Chawla Government Medical College, Karnal, Haryana, India. Abstract Palmoplantar keratodermas(PPK) are group of cornification disorders characterized by epidermal hyperkeratotic lesions involving the palms and soles. A 50years old healthy male, presented with history of multiple punctate hyperkeratotic papules since last 5 years. Keywords: Palmoplantar keratoderma • Punctate •Hyperkeratotic papules Abbreviations: PPK: Palmoplantar keratodermas • PUVA: Psoralen plus Ultraviolet A • PPPK: Punctate Palmoplantar keratodermas • USG: Ultrasound Sonography• VRDL: Venereal Disease Research Laboratory Test • ELISA: Enzyme-Linked Immunosorbent Assay Introduction Mucosal surfaces were not involved. Biopsy sample was received. On histopathological examination of biopsy revealed massive hyperkeratosis over sharply limited area with depression of malphigian layer below general Palmoplantar keratoderma (PPK), clinically and genetically comprises level of epidermis. There was increase in the thickness of granular layer. The of heterogenous group of disorders characterised by hyperkeratosis of dermis was free of inflammation. Compilation of clinical and laboratory data palms and soles [1]. It can be hereditary or acquired. Hereditary PPK can helped to conclude the diagnosis of Palmoplantar Keratoderma-Punctate be further divided into three major categories: diffuse, focal, and punctate type. -
RD-Action Matchmaker – Summary of Disease Expertise Recorded Under
Summary of disease expertise recorded via RD-ACTION Matchmaker under each Thematic Grouping and EURORDIS Members’ Thematic Grouping Thematic Reported expertise of those completing the EURORDIS Member perspectives on Grouping matchmaker under each heading Grouping RD Thematically Rare Bone Achondroplasia/Hypochondroplasia Achondroplasia Amelia skeletal dysplasia’s including Achondroplasia/Growth hormone cleidocranial dysostosis, arthrogryposis deficiency/MPS/Turner Brachydactyly chondrodysplasia punctate Fibrous dysplasia of bone Collagenopathy and oncologic disease such as Fibrodysplasia ossificans progressive Li-Fraumeni syndrome Osteogenesis imperfecta Congenital hand and fore-foot conditions Sterno Costo Clavicular Hyperostosis Disorders of Sex Development Duchenne Muscular Dystrophy Ehlers –Danlos syndrome Fibrodysplasia Ossificans Progressiva Growth disorders Hypoparathyroidism Hypophosphatemic rickets & Nutritional Rickets Hypophosphatasia Jeune’s syndrome Limb reduction defects Madelung disease Metabolic Osteoporosis Multiple Hereditary Exostoses Osteogenesis imperfecta Osteoporosis Paediatric Osteoporosis Paget’s disease Phocomelia Pseudohypoparathyroidism Radial dysplasia Skeletal dysplasia Thanatophoric dwarfism Ulna dysplasia Rare Cancer and Adrenocortical tumours Acute monoblastic leukaemia Tumours Carcinoid tumours Brain tumour Craniopharyngioma Colon cancer, familial nonpolyposis Embryonal tumours of CNS Craniopharyngioma Ependymoma Desmoid disease Epithelial thymic tumours in -
Dermatofibrosarcoma Protuberans in a Male Infant
Pediatric Case Reports Dermatofibrosarcoma Protuberans in a Male Infant Leslie Peard, Nicholas G. Cost, and Amanda F. Saltzman Dermtofibrosarcoma protuberans is a rare cutaneous malignancy known to be locally aggressive. It is uncommonly seen in the pediatric population and can be difficult to distinguish from other benign skin lesions. We present a case of dermatofi- brosarcoma protuberans of the penis in a 6-month-old child managed with surgical resection. This case highlights the challenges of diagnosis of genital lesions in children and the complexities of genitourinary reconstruction following surgical resection. UROLOGY 129: 206−209, 2019. © 2018 Elsevier Inc. ermatofibrosarcoma protuberans (DFSP) is a and no frozen section was sent intraoperatively. The rare cutaneous malignancy with reported foreskin was not sent to pathology per institutional D annual incidence of 4.2 per million (0.3 to practice. 1.3 per million in pediatric patients) in the United Pathologic evaluation by a dermatopathologist revealed States. Patients are typically 20-50 years old. DFSP a CD34+ spindle cell neoplasm, favoring DFSP, with most commonly occurs on the trunk, and is very rarely involvement of deep and “lateral” margins (again, the found on the genitalia.1 To our knowledge, only four specimen was not orientated). FISH for the chromosomal cases of penile DFSP have been reported.2-4 The tumor translocation t(17,22) was negative. CT chest obtained is locally aggressive, with few reported cases of metas- for staging was negative for metastasis. After discussion at tasis.1 There is a paucity of data concerning character- multidisciplinary tumor board, options for management istics of disease and treatment strategies with only 2 proposed included Mohs surgery under local anesthesia by published guidelines available to guide management.5,6 dermatology versus wide local excision with frozen section We present a case of DFSP of the penis in an infant, under general anesthesia by urology.