Anetoderma Secondary to Mid-Dermal Elastolysis
Total Page:16
File Type:pdf, Size:1020Kb
Load more
Recommended publications
-
UC Davis Dermatology Online Journal
UC Davis Dermatology Online Journal Title Penicillamine-associated cutis laxa and milia en plaque - case report and review of cutaneous changes associated with penicillamine Permalink https://escholarship.org/uc/item/47p4d8zv Journal Dermatology Online Journal, 22(5) Authors Vajdi, Tina Lee, Wiggin Wu Paravar, Taraneh Publication Date 2016 DOI 10.5070/D3225030951 License https://creativecommons.org/licenses/by-nc-nd/4.0/ 4.0 Peer reviewed eScholarship.org Powered by the California Digital Library University of California Volume 22 Number 5 May 2016 Photo Vignette Penicillamine-associated cutis laxa and milia en plaque - case report and review of cutaneous changes associated with penicillamine Tina Vajdi1, Wiggin Wu Lee2, Taraneh Paravar2 Dermatology Online Journal 22 (5): 12 1University of California, San Diego School of Medicine 2Department of Dermatology, University of California, San Diego Correspondence: Taraneh Paravar, MD Assistant Clinical Professor Department of Dermatology University of California, San Diego 8899 University Center Lane, Suite 350 San Diego, California 92122, USA Tel. (858) 657-8322 E-mail: [email protected] Abstract Penicillamine-induced skin changes are rare and include: hypersensitivity reactions, autoimmune reactions, and cutaneous elastoses. We report a case of a 73-year-old man with cystinuria taking penicillamine for over 50 years who presented with penicillamine-induced cutis laxa and milia en plaque. A brief review of penicillamine induced skin changes, specifically cutis laxa and milia en plaque, is presented. Key Words: penicillamine, elastic tissue, cystinuria, cutis laxa, milia en plaque Introduction Penicillamine is a chelating agent commonly used to treat cystinuria and Wilson disease. Cystinuria is a genetic disorder in which patients lack the cysteine amino acid transporter. -
De Barsy Syndrome
orphananesthesia Anesthesia recommendations for patients suffering from De Barsy syndrome Disease name: De Barsy syndrome ICD 10: Q87.7; OMIM 614438 Synonyms: DBS, De Barsy-Moens-Dierckx syndrome, Progeroid syndrome of De Barsy, Autosomal recessive cutis laxa Type 3 *With 2 gene subdivisions: ARCL3A: caused by a ALDH18A1 mutation ARCL3B: caused by a PYCR1 mutation DeBarsy syndrome is a rare clinical syndrome characterized by cutis laxa, ophthalmic opacification, skeletal malformations, as well as mental and growth retardation. This disease is genetically transmitted in an autosomal recessive fashion. Affected patients often require surgical correction of ophthalmic and orthopaedic abnormalities. This syndrome was first described by A.M. De Barsy in 1967 and less than 100 known cases are documented in the medical literature. Very little has been published on this rare disorder and only a single article has addressed anesthesia case outcomes and management strategies (Aponte, 2010). The diverse collection of clinical manifestations in De Barsy syndrome includes: intra-uterine growth retardation (IUGR), postnatal growth delay, motor delay, cognitive impairment, hypontonia, athetoid movements, malformations, microcephaly, wormian bones, large fontanelles, facial dysmorphism, cataracts, corneal clouding, thin/wrinkled skin, easy bruising, sparse hair, joint laxity, osteopenia, and inguinal hernias. Medicine in progress Perhaps new knowledge Every patient is unique Perhaps the diagnostic is wrong Find more information on the disease, its centres -
Dermatose Degenerativa Induzida Por D-Penicilamina Em Paciente Com Doença De Wilson
Revista SPDV 76(2) 2018; D-Penicillamine induced degenerative dermopathy; Rui Pedro Santos, Joana Gomes, Celeste Brito. Caso Clínico Dermatose Degenerativa Induzida por D-penicilamina em Paciente com Doença de Wilson Rui Pedro Santos1, Joana Gomes2, Celeste Brito2 1Interno de Dermatovenereologia/Resident, Dermatovenereology, Hospital de Braga, Braga, Portugal 2Especialista de Dermatovenereologia/Specialist of Dermatovenereology, Hospital de Braga, Braga, Portugal RESUMO – As dermatoses degenerativas induzidas por D-penicilamina incluem, entre outras, a elastose perfurante serpiginosa e o pseudo-pseudoxantoma elástico. A elastose perfurante serpiginosa é uma doença perfurante rara caracterizada pela elimi- nação transepidérmica de fibras elásticas anormais. Esta condição pode ser idiopática, reativa ou induzida por D-penicilamina, habitualmente utilizada para o tratamento da doença de Wilson, cistinúria, artrite reumatóide ou esclerose sistémica. Manifesta- ções cutâneas semelhantes a pseudoxantoma elástico mas sem história familiar e mutações do gene ABCC6 foram identificadas como sendo uma dermatose induzida por D-penicilamina e designada de pseudo-pseudoxantoma elástico. Descreve-se o caso de uma mulher de 17 anos tratada por vários anos com D-penicilamina para doença de Wilson, com pápulas assintomáticas, algumas cor de pele e hiperqueratósicas e outras macias e amareladas, na região cervical e face. A histopatolo- gia mostrou a eliminação transepidérmica de fibras elásticas espessadas, em forma de dentes de serra. Estes achados sugeriram uma dermopatia induzida por D-penicilamina e os autores consideraram o diagnóstico de elastose perfurante serpiginosa e pseudo-pseudoxantoma elástico no mesmo paciente. O fármaco foi alterado para acetato de zinco sem lesões novas, mas com manutenção das lesões existentes no seguimento a 1 ano. -
Dermatologists Cannot Be Lax About Acquired Cutis Laxa by Warren R
Dermatologists cannot be lax about acquired cutis laxa By Warren R. Heymann, MD Jan. 28, 2019 Acral localized acquired cutis laxa. Loose, redundant skin on the volar finger pads bilaterally that gave them a flat, rounded appearance. Credit: JAADFrom the time I was a medical student, I have always been fascinated by the “little old man” appearance of patient with cutis laxa (CL). In their excellent review, Berk et al note that CL is characterized by abnormal elastic fibers resulting in loose, redundant skin. Typically, skin in CL can easily be pulled and only slowly returns to its original position. Unlike some conditions in the differential diagnosis, notably Ehlers-Danlos syndrome(s) or pseudoxanthoma elasticum, easy bruising or abnormal scarring does not characterize CL. Redundant skin is often most noticeable on the neck, hands, and groin, but can also be seen on the face, creating a premature aging appearance. CL may be inherited or acquired (ACL). Inherited forms include autosomal dominant CL; autosomal recessive CL (ARCL)-I, -IIA, and -IIB; X-linked CL and other variants. Although all of the inherited forms of CL are rare, ARCL has most commonly been reported, particularly ARCL- II. Because of significant overlap among these types, precise clinical classification can be difficult. For the clinical differentiation of the variants and their genetic mutations, please refer to Berk et al (1). The etiology of CL involves abnormalities the elastic fiber network in skin and internal organs. Autosomal dominant CL has been associated with mutations of the elastin gene. X-linked CL is associated with gene mutations ATPA7 and abnormalities of copper transport. -
5 Allergic Diseases (And Differential Diagnoses)
Chapter 5 5 Allergic Diseases (and Differential Diagnoses) 5.1 Diseases with Possible IgE Involve- tions (combination of type I and type IVb reac- ment (“Immediate-Type Allergies”) tions). Atopic eczema will be discussed in a separate section (see Sect. 5.5.3). There are many allergic diseases manifesting in The maximal manifestation of IgE-mediated different organs and on the basis of different immediate-type allergic reaction is anaphylax- pathomechanisms (see Sect. 1.3). The most is. In the development of clinical symptoms, common allergies develop via IgE antibodies different organs may be involved and symp- and manifest within minutes to hours after al- toms of well-known allergic diseases of skin lergen contact (“immediate-type reactions”). and mucous membranes [also called “shock Not infrequently, there are biphasic (dual) re- fragments” (Karl Hansen)] may occur accord- action patterns when after a strong immediate ing to the severity (see Sect. 5.1.4). reactioninthecourseof6–12harenewedhy- persensitivity reaction (late-phase reaction, LPR) occurs which is triggered by IgE, but am- 5.1.1 Allergic Rhinitis plified by recruitment of additional cells and 5.1.1.1 Introduction mediators.TheseLPRshavetobedistin- guished from classic delayed-type hypersensi- Apart from being an aesthetic organ, the nose tivity (DTH) reactions (type IV reactions) (see has several very interesting functions (Ta- Sect. 5.5). ble 5.1). It is true that people can live without What may be confusing for the inexperi- breathing through the nose, but disturbance of enced physician is familiar to the allergist: The this function can lead to disease. Here we are same symptoms of immediate-type reactions interested mostly in defense functions against are observed without immune phenomena particles and irritants (physical or chemical) (skin tests or IgE antibodies) being detectable. -
Elastosis Perforans Serpiginosa: a D-Penicillamine Induced Dermatoses in a Patient with Wilson’S Disease
Article / Clinical Case Report Elastosis Perforans Serpiginosa: a D-penicillamine induced dermatoses in a patient with Wilson’s disease Swagatika Samala , Mukund Sablea How to cite: Samal S, Sable M. Elastosis Perforans Serpiginosa: a D-penicillamine induced dermatoses in a patient with Wilson’s disease. Autops Case Rep [Internet]. 2020 Apr-Jun;10(2):e2020167. https://doi.org/10.4322/acr.2020.167 ABSTRACT Long term use of D-penicillamine for Wilson’s disease can be associated with many adverse reactions and systemic side effects. We report the case of a 28-year-old male patient diagnosed with Wilson’s disease presenting with a serpiginous raised violaceous skin lesion in the anterior aspect of the neck over the last six months and two small papules with central umbilication during the last month. Histopathological examination of skin lesions demonstrated transepidermal perforating channel, and the Verhoeff’s-van Gieson stain showed marked increase number of irregular serrated elastic fibers suggesting the diagnosis of D- penicillamine induced elastosis perforans serpiginosa. Keywords Skin Diseases; Biopsy; Elastic tissue. INTRODUCTION CASE REPORT D-penicillamine (DPA) therapy is the mainstay A 28-year-male diagnosed with WD on oral DPA of chelation therapy for patients of Wilson’s therapy (250 mg thrice daily) for the last 18 years disease (WD). Various systemic adverse effects, presented with serpiginous raised violaceous skin including many dermatological manifestations, lesions in the anterior aspect of neck over the last may be observed with prolonged use of this drug. six months and two small papules with central The dermatological side effects of DPA can be of three umbilication for one month (Figure 1). -
The Skin in Genetically-Controlled Metabolic Disorders P
Review Article J Med Genet: first published as 10.1136/jmg.10.2.101 on 1 June 1973. Downloaded from Journal of Medical Genetics (1973). 10, 101. The Skin in Genetically-controlled Metabolic Disorders P. C. H. NEWBOLD Department of Medicine, Cambridge University Medical School, Hills Road, Cambridge CB2 2QL Diseased nature oftentimes breaks forth however, it may lead to difficulty in assessing intelli- In strange eruptions.-Henry IV, part 1, III, i. gence, which is within normal range in 50% of The skin is now commonly accepted as a mirror patients. There is suggestive evidence of a re- of internal disease, but as with other looking-glasses, lationship between subnormal folate levels and low the evidence offered may be selected or ignored. intelligence (Carey et al, 1968), and studies have The epidermis is an interesting structure, especially shown increased turnover of folate coenzymes and rich in tyrosine, phenylalanine, tryptophan, and resulting folate depletion in these patients (Carey et histidine, when compared with the corium (Roth- al, 1968; Butterworth, Krumdieck, and Baugh, man, 1965). Tyrosinaemia and histidinaemia do 1971). There is also a high incidence of an organic not include cutaneous manifestations, but culture of brain syndrome following intracranial vascular skin fibroblasts is a helpful diagnostic tool for study- thromboses (Dunn, Perry, and Dolman, 1966), ing metabolic defects such as citrullinaemia, cysti- copyright. nosis, and maple-syrup urine disease (Scriver, 1969). Most of the conditions now to be described are rare, but if these metabolic diseases were com- mon, there could be no human race as we know it. Homocystinuria http://jmg.bmj.com/ This most informative anomaly was discovered during a study of mentally retarded patients in Ire- land (Carson and Neill, 1962). -
RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa
REPORT RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome Lina Basel-Vanagaite,1,2,14 Ofer Sarig,4,14 Dov Hershkovitz,6,7 Dana Fuchs-Telem,2,4 Debora Rapaport,3 Andrea Gat,5 Gila Isman,4 Idit Shirazi,4 Mordechai Shohat,1,2 Claes D. Enk,10 Efrat Birk,2 Ju¨rgen Kohlhase,11 Uta Matysiak-Scholze,11 Idit Maya,1 Carlos Knopf,9 Anette Peffekoven,12 Hans-Christian Hennies,12 Reuven Bergman,8 Mia Horowitz,3 Akemi Ishida-Yamamoto,13 and Eli Sprecher2,4,6,* Inherited disorders of elastic tissue represent a complex and heterogeneous group of diseases, characterized often by sagging skin and occasionally by life-threatening visceral complications. In the present study, we report on an autosomal-recessive disorder that we have termed MACS syndrome (macrocephaly, alopecia, cutis laxa, and scoliosis). The disorder was mapped to chromosome 20p11.21-p11.23, and a homozygous frameshift mutation in RIN2 was found to segregate with the disease phenotype in a large consan- guineous kindred. The mutation identified results in decreased expression of RIN2, a ubiquitously expressed protein that interacts with Rab5 and is involved in the regulation of endocytic trafficking. RIN2 deficiency was found to be associated with paucity of dermal micro- fibrils and deficiency of fibulin-5, which may underlie the abnormal skin phenotype displayed by the patients. Disorders of elastic tissue often share common phenotypic shown to result in decreased secretion of elastin.9,10 In features, including redundant skin, hyperlaxity of joints, addition, -
Genetics of Lipedema: New Perspectives on Genetic Research and Molecular Diagnoses S
European Review for Medical and Pharmacological Sciences 2019; 23: 5581-5594 Genetics of lipedema: new perspectives on genetic research and molecular diagnoses S. PAOLACCI1, V. PRECONE2, F. ACQUAVIVA3, P. CHIURAZZI4,5, E. FULCHERI6,7, M. PINELLI3,8, F. BUFFELLI9,10, S. MICHELINI11, K.L. HERBST12, V. UNFER13, M. BERTELLI2; GENEOB PROJECT 1MAGI’S LAB, Rovereto (TN), Italy 2MAGI EUREGIO, Bolzano, Italy 3Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples, Italy 4Istituto di Medicina Genomica, Fondazione A. Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy 5UOC Genetica Medica, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, Rome, Italy 6Fetal and Perinatal Pathology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy 7Department of Integrated Surgical and Diagnostic Sciences, University of Genoa, Genoa, Italy 8Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy 9Fetal and Perinatal Pathology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy 10Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal-Infantile Sciences, University of Genoa, Genoa, Italy 11Department of Vascular Rehabilitation, San Giovanni Battista Hospital, Rome, Italy 12Department of Medicine, University of Arizona, Tucson, AZ, USA 13Department of Developmental and Social Psychology, Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy Abstract. – OBJECTIVE: The aim of this quali- Introduction tative review is to provide an update on the cur- rent understanding of the genetic determinants of lipedema and to develop a genetic test to dif- Lipedema is an underdiagnosed chronic debil- ferentiate lipedema from other diagnoses. itating disease characterized by bruising and pain MATERIALS AND METHODS: An electronic and excess of subcutaneous adipose tissue of the search was conducted in MEDLINE, PubMed, and legs and/or arms in women during or after times Scopus for articles published in English up to of hormone change, especially in puberty1. -
A Mechanochemical Model of Striae Distensae ⇑ Stephen J
Mathematical Biosciences 240 (2012) 141–147 Contents lists available at SciVerse ScienceDirect Mathematical Biosciences journal homepage: www.elsevier.com/locate/mbs A mechanochemical model of striae distensae ⇑ Stephen J. Gilmore a, Benjamin L. Vaughan Jr. b, , Anotida Madzvamuse c, Philip K. Maini b,d a Dermatology Research Centre, University of Queensland, School of Medicine, Princess Alexandra Hospital, Brisbane, Australia b Centre for Mathematical Biology, Mathematical Institute, University of Oxford, UK c Department of Mathematics, University of Sussex, UK d Oxford Centre for Integrative Systems Biology, Department of Biochemistry, University of Oxford, UK article info abstract Article history: Striae distensae, otherwise known as stretch marks, are common skin lesions found in a variety of clinical Received 6 October 2011 settings. They occur frequently during adolescence or pregnancy where there is rapid tissue expansion Received in revised form 28 June 2012 and in clinical situations associated with corticosteroid excess. Heralding their onset is the appearance Accepted 29 June 2012 of parallel inflammatory streaks aligned perpendicular to the direction of skin tension. Despite a consid- Available online 14 July 2012 erable amount of investigative research, the pathogenesis of striae remains obscure. The interpretation of histologic samples – the major investigative tool – demonstrates an association between dermal lympho- Keywords: cytic inflammation, elastolysis, and a scarring response. Yet the primary causal factor in their aetiology is Stretch marks mechanical; either skin stretching due to underlying tissue expansion or, less frequently, a compromised Mathematical modelling Numerical simulation dermis affected by normal loads. In this paper, we investigate the pathogenesis of striae by addressing the coupling between mechanical forces and dermal pathology. -
Acquired Cutis Laxa of Face with Multiple Myeloma
Letters to the Editor 6. Takayama K, Satoh T, Hayashi M, Yokozeki H. Psoriatic skin Serum β2‑microglobulin was increased. Bone marrow lesions induced by BCG vaccination. Acta Derm Venereol examination revealed 14% plasma cells. Based on 2008;88:621‑2. 7. Monacelli M. Koebner reaction in psoriasis. In: Farber EM, these findings, a diagnosis of early multiple myeloma Cox AJ, editors. Psoriasis: Proceedings of the International with nephrotic syndrome was made. She was started Symposium. Vol. 99. Stanford: Stanford University press; 1971. p. 104‑11. on a chemotherapy regimen consisting of thalidomide 8. Rambukkana A, Das PK, Witkamp L, Yong S, Meinardi MM, (100 mg/day), oral cyclophosphamide (150 mg/day) Bos JD. Antibodies to mycobacterial 65‑kDa heat shock protein both for the first five days in every month with weekly and other immunodominantantigens in patients with psoriasis. J Invest Dermatol 1993;100:87‑92. intravenous dexamethasone (40 mg/week) along with loop diuretics. In addition, the patient was prescribed Access this article online bortezomib which was discontinued by the patient after two months. Following one year of treatment, the Quick Response Code: Website: www.ijdvl.com anasarca subsided leaving behind loose wrinkled skin all over the body. Over the next one year, the skin over the DOI: 10.4103/0378-6323.140309 extremities and the abdomen reverted back to normal; however, loosening of skin persisted over the face. PMID: ***** Examination revealed a healthy‑appearing woman, who appeared older than her stated age [Figure 1]. She Acquired cutis laxa of face with had loose, sagging skin on the face and neck giving her a hound‑dog facies [Figure 2]. -
Atypical Acrodermatitis Chronica Atrophicans Herxheimer
www.symbiosisonline.org Symbiosis www.symbiosisonlinepublishing.com Case Report Clinical Research in Dermatology: Open Access Open Access Atypical Acrodermatitis Chronica Atrophicans Herxheimer Wollina U1*, Boldt S1, Heinig B2, Schönlebe J3 1Department of Dermatology and Allergology 2Center of Physical and Rehabilitative Medicine 3Institute of Pathology “Georg Schmorl”, Academic Teaching Hospital Dresden-Friedrichstadt, Dresden, Germany Received: December 14, 2015; Accepted: December 19, 2015; Published: December 23, 2015 *Corresponding author: Prof. Dr. U. Wollina, Department of Dermatology and Allergology, Academic Teaching Hospital Dresden-Friedrichstadt, Friedrichstrasse 41, 01067 Dresden, Germany. E-mail: [email protected] Abstract Acrodermatitis Chronica Atrophicans Herxheimer (ACA) is Sensitivity and specificity of enzyme immuno assay and immune a tick-born disease due to infection by Borrelia afzelii, the major blot are 95% and 80-95% for ACA [4]. Polymerase chain reaction vector organism is Ixodes rhicinus. We report on a 48-year-old male (PCR) of skin biopsies was positive in up to 88% on fresh-frozen tissueCase butReport only in 44-52% using paraffin-embedded tissue [5]. symmetric plaques associated with hyperpigmented widely distributedpatient who lesions developed within extensive the tension livid-erythematous lines, and acrocyanosis. fibrosclerotic The of a skin biopsy and laboratory investigations with positive IgG and A 48-year-old male patient was referred to our hospital IgMdiagnosis immunoblots. of ACA has The been patient confirmed was treated by histopathologic by intravenous examination ceftriaxone because of large livid-erythematous fibrosclerotic plaques on resulting in partial remission of cutaneous and extracutaneous his trunk and extremities which developed within half a year. He symptoms. suffered from arterial hypertension and had a penicillin allergy.