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Dermatol Online J 2018 Aug 15;24(8). Epub 2018 Aug 15.

Department of Dermatology, Hospital Universitario Fundacion Alcorcon, Madrid.

Vemurafenib, a kinase inhibitor that targets tumors with the BRAF V600E mutation, is a promising option for unresectable or metastatic melanoma. Cutaneous side-effects have been reported including alopecia, photosensitivity, squamous cell carcinoma, keratoacanthomas, keratosis pilaris-like eruption, and palmoplantar hyperkeratosis. Acneiform eruptions have been reported in 3%-6% of the patients treated with BRAF inhibitors,and 5 cases are described in the literature. Read More

Am J Clin Dermatol 2019 Feb;20(1):165

Private practice, St Albans, UK.

Pediatr Dermatol 2019 Jan 26;36(1):e62-e63. Epub 2018 Nov 26.

Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

Vemurafenib, a selective BRAF kinase inhibitor, has been found to induce several cutaneous adverse effects, ranging from a keratosis pilaris-like reaction to squamous cell carcinoma. While photosensitivity has been well described as one of these manifestations, we report a case of a 6-year-old boy on vemurafenib who developed a severe blistering sunburn after only two 30-minute episodes of sun exposure. A brief review of other common cutaneous adverse effects of vemurafenib is also provided. Read More

Br J Dermatol 2018 Nov 12. Epub 2018 Nov 12.

University of Paris-Diderot, Paris, France.

Background: Data on dermatological manifestations of Noonan syndrome (NS) remain heterogeneous and are based on limited dermatological expertise.

Objectives: To describe the dermatological manifestations of NS, compare them with the literature findings, and test for dermatological phenotype-genotype correlations with or without the presence of PTPN11 mutations.

Methods: We performed a large 4-year, prospective, multicentric, collaborative dermatological and genetic study. Read More

Eur J Dermatol 2018 Aug;28(4):566-567

Department of Dermatology and Venereology, Hospital de Santo António dos Capuchos - Centro Hospitalar de Lisboa Central, Alameda de Santo António dos Capuchos, 1169-050 Lisbon, Portugal.

J Dtsch Dermatol Ges 2018 Oct;16(10):1289-1295

Department of Pediatrics and Adolescent Medicine, Division of Pediatric Endocrinology and Diabetology, Saarland University Medical Center, Homburg, Germany.

With an incidence of 1 in 700 births, Down syndrome (DS) is not an uncommon condition. It is associated with various disorders of different organ systems. Serious disorders include cardiac defects and leukemia. Read More

J Dtsch Dermatol Ges 2018 Oct;16(10):1289-1296

Universität des Saarlandes, Kliniken für Kinder- und Jugendmedizin, Sektion Pädiatrische Endokrinologie und Diabetologie, Homburg.

Das Down-Syndrom (DS) ist mit einer Inzidenz von 1 : 700 aller Geburten nicht selten und mit diversen Erkrankungen unterschiedlicher Organsysteme assoziiert. Zu den schwerwiegenden Erkrankungen zählen Herzfehler und Leukämie. Letztere zeigt sich im Neugeborenenalter und geht nicht immer in eine klassische myeloische Leukämie über (transiente myeloproliferative Erkrankung). Read More

J Cutan Pathol 2018 Dec 21;45(12):958-961. Epub 2018 Oct 21.

Department of Dermatology, University of California Irvine, Irvine, California.

Keratosis pilaris (KP) is a benign cutaneous disorder characterized by folliculocentric hyperkeratotic papules most often occurring on the proximal extremities. Erythema is usually limited to perifollicular skin, but when keratosis pilaris presents on a background of confluent erythema, the term keratosis pilaris rubra (KPR) is used. The histological findings associated with KP have not been well described in the literature. Read More

Am J Med Genet A 2018 Nov 23;176(11):2395-2403. Epub 2018 Sep 23.

Laboratory of Cytogenetics, Research Institute of Medical Genetics, Tomsk NRMC, Tomsk, Russia.

The application of array-based comparative genomic hybridization and next-generation sequencing has identified many chromosomal microdeletions and microduplications in patients with different pathological phenotypes. Different copy number variations are described within the short arm of chromosome 18 in patients with skin diseases. In particular, full or partial monosomy 18p has also been associated with keratosis pilaris. Read More

Clin Dermatol 2018 Sep - Oct;36(5):631-640. Epub 2018 Jun 1.

Department of Dermatology, Mt Sinai West, Icahn School of Medicine at Mt Sinai, New York, NY. Electronic address:

Atopic dermatitis is a common chronic pruritic inflammatory skin disorder, characterized by an abnormal skin barrier, immune dysfunction, and an altered skin microbiome. Atopic dermatitis may be seen in conjunction with a variety of other skin disorders due to the complex pathogenesis of atopic dermatitis, involving genetic and environmental factors that are associated with immune dysfunction, barrier defects, and altered skin microbiomes. Skin disorders associated with atopic dermatitis include diseases sharing similar genetic origins like ichthyosis vulgaris, infectious diseases such as impetigo, and eczema herpeticum, in addition to the cutaneous autoimmune diseases, alopecia areata, and vitiligo. Read More

Int J Dermatol 2018 11 27;57(11):e140-e141. Epub 2018 Aug 27.

Department of Dermatology, University of Health Sciences, Ankara Numune Training and Research Hospital, Ankara, Turkey.

Lasers Med Sci 2018 Nov 24;33(8):1631-1637. Epub 2018 Aug 24.

Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, 1475 NW 12th Ave., 2nd Floor, Unit 2099, Sylvester Comprehensive Cancer Center, Miami, FL, 33136, USA.

Usage of photopneumatic technology has recently increased for treatment of different skin conditions such as acne, keratosis pilaris (KP), and rosacea. Photopneumatic devices combine gentle negative pressure with broad band pulsed light simultaneously to attack multiple targets in the skin for better treatment outcomes. In this literature review, we evaluate the efficacy of photopneumatic therapy on treatment of acne, keratosis pilaris (KP), and rosacea. Read More

Br J Dermatol 2019 Jan 30;180(1):172-180. Epub 2018 Sep 30.

Department of Clinical Genetics, Arnaud de Villeneuve Hospital, University of Montpellier, Montpellier, France.

Background: Data on dermatological manifestations of cardiofaciocutaneous syndrome (CFCS) remain heterogeneous and almost without expert dermatological classification.

Objectives: To describe the dermatological manifestations of CFCS; to compare them with the literature findings; to assess those discriminating CFCS from other RASopathies, including Noonan syndrome (NS) and Costello syndrome (CS); and to test for dermatological phenotype-genotype correlations.

Methods: We performed a 4-year, large, prospective, multicentric, collaborative dermatological and genetic study. Read More

Mol Med Rep 2018 Sep 31;18(3):3153-3158. Epub 2018 Jul 31.

Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China.

Keratosis pilaris (KP) and nevus comedonicus (NC) are congenital keratinized dermatoses; however, the exact etiology of these two diseases is unclear. The objective of the present study was to identify the disease‑causing genes and their association with functional alterations in the development of KP and NC. Peripheral blood samples of one KP family, two NC families and 100 unrelated healthy controls were collected. Read More

Am J Clin Dermatol 2018 Oct;19(5):733-757

The Ronald O. Perelman Department of Dermatology, New York University School of Medicine, 240 East 38th Street, 11th Floor, New York, NY, 10016, USA.

Keratosis pilaris is a common skin disorder comprising less common variants and rare subtypes, including keratosis pilaris rubra, erythromelanosis follicularis faciei et colli, and the spectrum of keratosis pilaris atrophicans. Data, and critical analysis of existing data, are lacking, so the etiologies, pathogeneses, disease associations, and treatments of these clinical entities are poorly understood. The present article aims to fill this knowledge gap by reviewing literature in the PubMed, EMBASE, and CINAHL databases and providing a comprehensive, analytical summary of the clinical characteristics and pathophysiology of keratosis pilaris and its subtypes through the lens of disease associations, genetics, and pharmacologic etiologies. Read More

BMC Med Genet 2018 Jul 18;19(1):120. Epub 2018 Jul 18.

Department of Rehabilitation, Zhongnan Hospital of Wuhan University, Wuhan, 430000, China.

Background: X-linked ichthyosis (XLI) is a recessive keratinization condition caused by deficient activity of steroid-sulfatase due to mutations in steroid sulfatase (STS) gene located on the X chromosome. In contrast, ichthyosis vulgaris (IV) is caused by filaggrin deficiency due to semi-dominant loss-of-function mutations of filaggrin (FLG) gene. Filaggrin defects could synergize with XLI to exacerbate its phenotype. Read More

Acta Derm Venereol 2018 Aug;98(8):809-810

Department of Dermatology, "Emek" Medical Center, Afula, Israel.

J Cutan Med Surg 2018 Nov/Dec;22(6):621-623. Epub 2018 May 13.

4 Division of Clinical Dermatology and Cutaneous Science, Department of Medicine, Dalhousie University, Halifax, NS, Canada.

Background: Dasatinib is a tyrosine kinase inhibitor indicated for the treatment of chronic myeloid leukemia (CML). Skin rashes are common, occurring in about a quarter of patients treated, and are generally mild. The commonest rash is a keratosis pilaris-like eruption. Read More

J Drugs Dermatol 2018 May;17(5):554-556

Chlorine dioxide complex™ is a new molecule to dermatology that is a unique, non-toxic, broad spectrum anti-microbial and keratolytic compound. Chlorine dioxide has been used as an antiseptic in industrial settings for decades, primarily in water treatment facilities for municipal water supplies and food preparation. The compound has exceptional antiseptic properties with no known potential for development of resistance. Read More

Clin Chem 2018 Apr 15;64(4):715-725. Epub 2018 Mar 15.

Advanced Genomics Technology Lab, Complete Genomics, Inc., San Jose, CA;

Background: Amniocentesis is a common procedure, the primary purpose of which is to collect cells from the fetus to allow testing for abnormal chromosomes, altered chromosomal copy number, or a small number of genes that have small single- to multibase defects. Here we demonstrate the feasibility of generating an accurate whole-genome sequence of a fetus from either the cellular or cell-free DNA (cfDNA) of an amniotic sample.

Methods: cfDNA and DNA isolated from the cell pellet of 31 amniocenteses were sequenced to approximately 50× genome coverage by use of the Complete Genomics nanoarray platform. Read More

J Drugs Dermatol 2018 Mar;17(3):285-288

Keratosis pilaris (KP) is a common skin finding that presents as follicular hyperkeratotic papules on the proximal extremities in patients with a propensity for atopy. Although often asymptomatic, the stippled appearance is cosmetically disturbing to patients and difficult to treat as current therapies are limited in availability and efficacy. Nitric oxide (NO) has been found to be essential in basic systemic and cutaneous physiologic function, specifically in terms of its anti-microbial and anti-inflammatory properties, which evolutionarily was maintained by ammonia-oxidizing bacteria (AOB). Read More

Indian J Dermatol 2017 Nov-Dec;62(6):606-611

Department of Dermatology, Venereology and Leprosy, IPGMER and SSKM Hospital, Kolkata, West Bengal, India.

Background: Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes. There is scanty data regarding the demographic profile and clinical features of patients with congenital ichthyosis in India. Read More

Pediatr Dermatol 2018 Jan 21;35(1):e70-e71. Epub 2017 Nov 21.

Department of Dermatology, STDs and Leprosy, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, India.

We describe 25 cases of erythromelanosis follicularis faciei et colli from India. The male:female ratio was 5.25:1 and the average age of onset was 12. Read More

Dermatol Surg 2017 Nov;43 Suppl 2:S163-S173

*Division of Dermatology, Loyola University Medical Center, Maywood, Illinois; †Division of Dermatology & Dermatologic Surgery, Scripps Clinic, La Jolla, California.

Background: Chemical peels are a mainstay of aesthetic medicine and an increasingly popular cosmetic procedure performed in men.

Objective: To review the indications for chemical peels with an emphasis on performing this procedure in male patients.

Materials And Methods: Review of the English PubMed/MEDLINE literature and specialty texts in cosmetic dermatology, oculoplastic, and facial aesthetic surgery regarding sex-specific use of chemical peels in men. Read More

Int J Trichology 2017 Apr-Jun;9(2):87-89

Department of Oncology and Hematology, School of Medicine, Saint-Joseph University, Hotel Dieu de France University Hospital and Medical Center, Beirut, Lebanon.

Tyrosine kinase enzymes are an attractive target for anticancer therapies. Tyrosine kinase inhibitors (TKI) are well tolerated; somehow severe systemic side effects are rarely seen during treatment. Toxicities of skin and appendages may lead to poor compliance, psychosocial inconvenience, and drug interruption. Read More

Int J Trichology 2017 Apr-Jun;9(2):67-69

Department of Dermatology, Sri Manakula Vinayagar Medical College and Hospital, Puducherry, India.

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare genetic, oculocutaneous disorder. So far, about forty patients have been reported worldwide. This disorder results from mutations in the membrane-bound transcription factor protease site 2 gene that impairs cholesterol homeostasis and the ability to cope with endoplasmic reticulum stress. Read More

J Cutan Pathol 2017 Mar 26. Epub 2017 Mar 26.

Department of Dermatology, Uniformed Services University of the Health Sciences, Los Angeles, Maryland.

Skin diseases presenting with keratotic papules, atrophy, cicatricial alopecia and/or "lichenoid" histopathologic changes have been described under at least 30 names. This family of diseases contains 2 subgroups, largely based on clinical features: keratosis pilaris atrophicans (KPA; including keratosis pilaris atrophicans faciei/ulerythema ophryogenes, atrophoderma vermiculata, and keratosis follicularis spinulosa decalvans); and the lichen planopilaris (LPP) subgroup (including LPP, frontal fibrosing alopecia, Graham-Little-Piccardi-Lassueur Syndrome and fibrosing alopecia in a pattern distribution). An interface dermatitis with lichenoid inflammation is characteristic of the LPP group of disorders, but the literature provides scant information about the histopathology of the KPA group. Read More

Anal Sci 2017 ;33(1):83-87

Department of Physics, University of Lucknow.

Tretinoin is known to be a pharmaceutical drug for treating acne vulgaris, keratosis pilaris, and acute promyelocytic leukemia. In order to reveal the possible conformers of tretinoin, the energies of all the conformers through rotational bonds have been evaluated by systematic rotor search analysis. The intramolecular interactions ranging from strong hydrogen bonds to weak van der Waals forces present in tretinoin have been distinguished with the help of electron density mapping and wavefunction analysis. Read More

Pediatr Dermatol 2017 Mar 23;34(2):160-162. Epub 2016 Dec 23.

Department of Dermatology, School of Medicine, Yale University, New Haven, Connecticut.

Costello syndrome (CS) is a multisystem congenital disorder characterized by coarse facial features, cardiac defects, intellectual disability, and predisposition to malignancies. Dermatologic findings can include cutaneous papillomas, skin redundancy, acanthosis nigricans, and keratosis pilaris. Palmoplantar keratoderma (PPK) is present in approximately 76% of patients with CS, with disabling functional consequences in severe cases. Read More

Dermatol Online J 2016 Aug 15;22(8). Epub 2016 Aug 15.

Department of Dermatology, Cleveland Clinic Foundation.

Keratosis pilaris (KP) is a disorder of follicular keratinization that is characterized by keratin plugs in the hair follicles with surrounding erythema. A 46-year-old man with chronic myelogenous leukemia (CML) was started on nilotinib, a second generation tyrosine kinase inhibitor (TKI). Two months later the patient noticed red bumps on the skin and patchy hair loss on the arms, chest, shoulders, back, and legs. Read More

Indian J Dermatol 2016 Jul-Aug;61(4):467

Department of Dermatology, Venereology and Leprology, Government Medical College, Kota, Rajasthan, India.

Erythromelanosis follicularis faciei et colli (EFFC) is a rare disease characterized by a triad of reddish-brown pigmentation, erythema and follicular papules localized on face and neck and is usually described in males. Erythrosis pigmentosa mediofacialis (also known as Brocq or erythrosis pigmentosa peribuccalis) is a similar disorder of the mediofacial area but with female predominance. We report a case of simultaneous occurrence of erythrosis pigmentosa peribuccalis and EFFC associated with keratosis pilaris in an adolescent female. Read More

Clin Exp Dermatol 2016 Aug 24;41(6):632-5. Epub 2016 Jun 24.

Department of Medical Genetics, Galliera Hospital, Genoa, Italy.

Palmoplantar keratoderma-congenital alopecia (PPKCA) syndrome is a rare genodermatosis, with two clinically recognizable forms: dominant (Type 1) and recessive (Type 2). Reports of only 18 patients have been published to date, and the molecular basis of the condition is unknown. We describe two cases with PPKCA Type 2 (PPKCA2), comprising a novel patient, originally reported as an example of autosomal ichthyosis follicularis-atrichia-photophobia syndrome, and the 6-year follow-up of a previously published case. Read More

Indian J Dermatol 2016 May-Jun;61(3):308-13

Pathologist, Lal Paths Lab, New Delhi, India.

Background: Erythromelanosis follicularis faciei et colli (EFFC) has always been reported as a rare disorder, and more data are needed to define its etiology and epidemiology.

Objectives: To present a descriptive study of this disorder from Kashmir and present a review of literature on the same.

Materials And Methods: A cross-sectional, descriptive study was conducted on 14 patients with clinical lesions suggestive of EFFC, presenting to our dermatology outpatient clinic between May 2013 and April 2015. Read More

Pediatr Dermatol 2016 Jul 10;33(4):443-6. Epub 2016 Jun 10.

Division of Clinical Dermatology, Mayo Clinic, Rochester, Minnesota.

Background: Keratosis pilaris rubra is a common but rarely reported condition characterized by follicular-based hyperkeratotic papules on a background of erythema. It can be embarrassing and symptomatic for patients, particularly adolescent boys. We sought to explore the efficacy of pulsed dye laser (PDL) in the treatment of keratosis pilaris rubra. Read More

Biomed Res Int 2016 9;2016:1928540. Epub 2016 May 9.

Division of Dermatology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand.

Objective. Keratosis pilaris (KP) is a common condition which can frequently be cosmetically disturbing. Topical treatments can be used with limited efficacy. Read More

J Am Acad Dermatol 2016 Aug 28;75(2):347-55. Epub 2016 May 28.

Institute of Pathology, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Background: It is generally accepted that folliculotropic mycosis fungoides (FMF) is usually typified by indurated plaques and tumors mainly on the head/neck and an aggressive course. However, its clinical manifestations have long been recognized to be quite variable, and some studies indicate a better prognosis for certain presentations.

Objective: We sought to summarize our experience with the clinicopathological presentations of FMF and impact on prognosis. Read More

Case Rep Dermatol 2016 Jan-Apr;8(1):91-6. Epub 2016 Apr 21.

Division of Dermatology, Department of Medicine, National University Health Systems, Singapore, Singapore.

Nilotinib is a second-generation Bcr-Abl tyrosine kinase inhibitor (TKI) that is approved for the treatment of imatinib-resistant chronic myeloid leukaemia expressing the Bcr-Abl mutation. Cutaneous adverse drug reactions occur more frequently in patients using this medication. We present a case of nilotinib-induced keratosis pilaris that did not have accompanying symptoms of alopecia or pruritus. Read More

Int J Trichology 2016 Jan-Mar;8(1):21-3

Department of Pathology, ESI-PGIMSR and ESIC Medical College, Kolkata, West Bengal, India.

Trichostasis spinulosa (TS) is a relatively common but underdiagnosed disorder of the pilosebaceous follicles in which there is follicular hyperkeratosis of a dilated hair follicle with retention of telogen hairs. Clinical presentation of this disorder can be confused with comedogenic acne, keratosis pilaris, eruptive vellus hair cysts, and Favre-Racouchot syndrome. A case of a nonpruritic variant of TS in a 16-year-old boy is reported because of its unusual location as well as presentation in the lower eyelid, giving an appearance of a double eyelid. Read More

J Dermatol 2016 Sep 30;43(9):1100-1. Epub 2016 Mar 30.

Department of Dermatology, Gunma University Graduate School of Medicine, Maebashi, Japan.

Dermatol Clin 2016 Apr;34(2):225-8

Department of Dermatology, Icahn School of Medicine at Mount Sinai, 5 East 98 Street, 5th Floor, New York, NY 10029, USA.

Acne vulgaris (AV) is considered a straightforward diagnosis made clinically without specific diagnostic testing. However, certain disorders may simulate AV, such as multiple small epidermal cysts or deep milia, multiple osteoma cutis, multiple small adnexal neoplasms, and follicular and/or infections characterized by multiple small papules and/or pustules such as gram-positive folliculitis, gram-negative folliculitis, Malassezia folliculitis, keratosis pilaris, and flat warts. This can lead to an erroneous diagnosis and improper management. Read More

Asian Pac J Allergy Immunol 2016 Jun;34(2):109-14

Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, China.

Background: Recent genome-wide association studies (GWAS) and a meta-analysis of GWAS for atopic dermatitis (AD) have identified some AD genetic loci in European and Japanese populations.

Objective: To investigate whether some novel susceptibility loci are associated with AD in the Chinese Han population.

Methods: We first selected eight novel susceptibility loci to replicate in 2,205 AD patients and 2,116 healthy controls using the Sequenom platform. Read More

MMW Fortschr Med 2016 Feb;158(2)

, Höntroper Str. 102,, D-44869, Bochum, Deutschland.

Case Rep Dermatol 2015 Sep-Dec;7(3):335-9. Epub 2015 Nov 27.

King Abdulaziz University, Jeddah, Saudi Arabia.

Erythromelanosis follicularis faciei is a rare sporadic condition of unknown etiology characterized by reddish-brownish patches and follicular papules that appear commonly on the face and rarely on the neck. Herein, we report a 16-year-old male who had asymptomatic facial skin lesions since early childhood. His family history revealed a similar case in his younger brother. Read More

Int J Trichology 2015 Jul-Sep;7(3):125-8

Department of Dermatology, Venereology and Leprology, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India.

Keratosis follicularis spinulosa decalvans is a disorder affecting the hair follicles characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma. Being X-linked, it is more commonly seen in males but can be rarely seen in females also. We report three cases of this rare disorder including one in a female. Read More

Int J Dermatol 2016 Apr 13;55(4):e211-2. Epub 2015 Nov 13.

Division of Dermatology, Women's College Hospital, University of Toronto Hair Loss Clinic, Toronto, ON, Canada.

Dermatology 2016 10;232(1):122-5. Epub 2015 Sep 10.

Department of Dermatology, UT MD Anderson Cancer Center, Houston, Tex., USA.

Background: Recently developed tyrosine kinase inhibitors (TKIs) offer first-line alternatives to patients with chronic myeloid leukemia. While these medications are generally well tolerated, cutaneous reactions occur frequently and can present a management challenge. We describe a newly recognized skin reaction to dasatinib and nilotinib and extend it to the newer agent ponatinib. Read More

Clin Exp Dermatol 2016 Mar 14;41(2):159-61. Epub 2015 Jul 14.

Department of Dermatology, Singleton Hospital, Swansea, UK.

Atrophoderma vermiculatum (AV) is a rare follicular dermatosis presenting with 'wormeaten' or 'honeycomb' atrophy, usually on the cheeks and sometimes extending to the preauricular areas and forehead. It predominantly affects children and follows a slowly progressive course. The treatment of AV is challenging. Read More

Dermatol Online J 2015 Jun 16;21(6). Epub 2015 Jun 16.

Ankara Numune Research and Training Hospital.

Graham-Little-Piccardi-Lasseur Syndrome (GLPLS) is a variant of lichen planopilaris, which is characterized by progressive cicatricial alopecia of scalp, non-cicatricial alopecia of axillae and pubic regions, and keratosis pilaris-like follicular papules over trunk and extremities. GLPLS is a disease of unknown etiology. However, recent reports support a central role for a T-cell-mediated immune response in the pathogenesis of GLPLS. Read More

J Med Genet 2015 Sep 3;52(9):599-606. Epub 2015 Jul 3.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Biomedical Centre, Uppsala, Sweden.

Background: Keratosis pilaris atrophicans (KPA) is a group of rare genodermatoses characterised by perifollicular keratosis and inflammation that progresses to atrophy and scars of the facial skin. Keratosis pilaris of extensor areas of limbs is a common associated finding. Most cases with KPA are sporadic and no consistent inheritance pattern has been documented. Read More