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Semin Diagn Pathol 2019 Jan 31. Epub 2019 Jan 31.

PRW Laboratories, Charlottesville, VA, United State.

A variety of cutaneous abnormalities can be seen in patients with malignant diseases, some of which are infectious, with others representing direct involvement of the skin by the underlying disorder. Yet another group of lesions can be regarded as associated markers of the malignant process, and, as such, are termed "paraneoplastic." This review considers the latter collection of conditions, grouping them by the generic type of malignancy that is usually linked to the paraneoplasia. Read More

Front Genet 2018 7;9:645. Epub 2019 Jan 7.

Institute of Dermatology and Department of Dermatology of First Affiliated Hospital, Hefei, China.

Epidermolytic palmoplantar keratoderma (EPPK, OMIM 144200) is an autosomal dominant inherited disease, clinically characterized by diffuse yellowish thickening of the skin on the palms and soles, usually with erythematous borders developing during the first weeks or months after birth. Pathogenesis of EPPK is determined by mutations in the keratin gene (KRT9). Thirty three mutations in the KRT9 gene from 100 EPPK families have been identified. Read More

Sci Rep 2019 Jan 10;9(1):19. Epub 2019 Jan 10.

Department of Physiology and Biophysics, Stony Brook University, Stony Brook, NY, 11794, USA.

Mutations in the gene (GJA1) encoding connexin43 (Cx43) are responsible for several rare genetic disorders, including non-syndromic skin-limited diseases. Here we used two different functional expression systems to characterize three Cx43 mutations linked to palmoplantar keratoderma and congenital alopecia-1, erythrokeratodermia variabilis et progressiva, or inflammatory linear verrucous epidermal nevus. In HeLa cells and Xenopus oocytes, we show that Cx43-G8V, Cx43-A44V and Cx43-E227D all formed functional gap junction channels with the same efficiency as wild-type Cx43, with normal voltage gating and a unitary conductance of ~110 pS. Read More

Mol Genet Metab Rep 2019 Mar 4;18:19-21. Epub 2019 Jan 4.

Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.

Gaucher disease (GD) is one of the commonest lysosomal storage diseases that is inherited in an autosomal recessive manner and affects 1 in 50,000 to 100,000 people in the general population. The frequency is much higher (1 in 500 to 1000) in people of Ashkenazi Jewish heritage due to a founder effect. GD is caused by decreased or absent activity of β-glucosidase with subsequent accumulation of the substrate glucosylceramide in macrophages due to genetic alterations in the gene. Read More

Ann Dermatol Venereol 2019 Feb 21;146(2):125-130. Epub 2018 Dec 21.

Service de dermatologie, CHU d'Angers, 4, rue Larrey, 49933 Angers cedex 9, France. Electronic address:

Background: Herein we present a case of palmoplantar keratoderma (PPK) in a young adopted girl of Chinese origin living in France.

Observation: The patient, aged six years, had presented transgressive PPK since birth, as well as erythema progressing in congestive inflammatory episodes, palmoplantar hyperhidrosis and progressive characteristics (moderate hyperkeratosis in areas of rubbing other than the palms and soles, namely the elbows and knees). Histopathological examination of a skin biopsy revealed a thick epidermis with lengthening and thickening of crests. Read More

Cutis 2018 Nov;102(5):344-346

Advanced Dermatology Associates, LTD, Allentown, Pennsylvania, USA.

Acrokeratoelastoidosis (AKE) is a marginal papular keratoderma that typically presents in childhood and young adulthood. Childhood cases have exhibited autosomal-dominant inheritance. Acrokeratoelastoidosis is distinct from other palmoplantar marginal papular keratodermas because of its characteristic dermal elastorrhexis with an overlying epithelial dell. Read More

J Dermatol 2019 Feb 19;46(2):154-157. Epub 2018 Dec 19.

Department of Dermatology, The First Affiliated Hospital of Huzhou University, Huzhou, China.

Vohwinkel syndrome (VS) is a rare autosomal dominant condition, also known as mutilating palmoplantar keratoderma accompanied by sensorineural deafness. The LOR and GJB2 genes are reported to be responsible for VS. The GJB2 gene encodes connexin 26, a component of intercellular gap junctions expressed in various tissues. Read More

Am J Med Genet A 2018 Dec 18;176(12):2862-2866. Epub 2018 Dec 18.

Institute of Clinical Genetics, Technische Universität Dresden, Dresden, Germany.

Autosomal recessive keratoderma-ichthyosis-deafness (ARKID) syndrome is a rare multisystem disorder caused by biallelic mutations in VPS33B; only three patients have been reported to date. ARKID syndrome is allelic to arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome (MIM #208085), a severe disorder with early lethality whose phenotypic characteristics also include ichthyosis, hearing loss, severe failure to thrive, platelet dysfunction and osteopenia. We report on an 11-year-old male patient with ARKID syndrome and compound heterozygous VPS33B mutations, one of which [c. Read More

Pediatr Dermatol 2019 Jan 12;36(1):e48-e49. Epub 2018 Dec 12.

Dermatology Program, Boston Children's Hospital, Boston, Massachusetts.

We report a child with a past medical history notable for congenital deafness, palmoplantar keratoderma (PPK), and hypothalamic glioma who initiated a MEK inhibitor trametinib for cancer-directed therapy at 11 years of age and was incidentally noted to have marked improvement in his PPK. Trametinib withdrawal led to worsening in the patient's PPK. We speculate that the patient's PPK improved because of trametinib, given the temporal relationship between trametinib therapy and PPK severity, observed both after introduction and withdrawal of trametinib therapy. Read More

Indian Dermatol Online J 2018 Nov-Dec;9(6):448-451

Department of Dermatology, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India.

Schopf-Schulz-Passarge syndrome (SSPS) is a rare type of ectodermal dysplasia that has autosomal recessive inheritance. It is characterized by palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy, and multiple periocular and eyelid apocrine hidrocystomas. A 36-year-old male presented with multiple eyelid and periocular apocrine hidrocystomas, ichthyosis, palmoplantar keratoderma, hypodontia, nail dystrophy, and thin scalp hair. Read More

Pediatr Dermatol 2019 Jan 4;36(1):132-138. Epub 2018 Dec 4.

Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

Background/objectives: Epidermolysis bullosa is a group of diseases caused by mutations in skin structural proteins. Availability of genetic sequencing makes identification of causative mutations easier, and genotype-phenotype description and correlation are important. We describe six patients with a keratin 5 mutation resulting in a glutamic acid to lysine substitution at position 477 (p. Read More

JAMA Dermatol 2018 Nov 28. Epub 2018 Nov 28.

Department of Dermatology, Reims University Hospital, University of Reims Champagne-Ardenne, Reims, France.

Importance: Development of transient palmoplantar keratoderma (PPK) with bullous pemphigoid (BP) has only been described in 2 isolated case reports. The clinical significance and the pathophysiologic mechanisms of this association are unknown.

Objective: To examine the clinical characteristics and immunological profile of patients with BP who develop transient PPK and analyze therapeutic options and outcomes. Read More

Genet Test Mol Biomarkers 2018 Nov 21. Epub 2018 Nov 21.

1 Department of Dermatology and The Second Affiliated Hospital of Xi'an Jiaotong University , Xi'an, People's Republic of China .

Aims: To identify potential causative gene mutations in a large Han Chinese pedigree with diffuse nonepidermolytic palmoplantar keratoderma (NEPPK).

Methods: We enrolled 11 patients and 8 healthy individuals from a pedigree with NEPPK and 100 randomly selected healthy controls. Biopsy samples were obtained from the proband. Read More

J Eur Acad Dermatol Venereol 2018 Nov 19. Epub 2018 Nov 19.

Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, KIta-ku, Sapporo, Hokkaido, 0608638, Japan.

Br J Dermatol 2018 Nov 19. Epub 2018 Nov 19.

Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, UK.

Punctate palmoplantar keratoderma (PPPK) is a rare, autosomal dominant disorder of keratinization with three main variants. PPPK type 1 (MIM 148600), also known as Buschke-Fischer-Brauer disease, is characterized by the progressive development of multiple small hyperkeratotic papules with central indentations that are irregularly distributed on the palms and soles, often deteriorating to more extensive diffuse hyperkeratosis on the weight-bearing areas of plantar skin. The PPPK1 gene was recently identified as the α and γ-adaptin binding protein p34 gene AAGAB, and in a single case, the COL14A1 gene. Read More

Hum Mutat 2019 Feb 1;40(2):217-229. Epub 2018 Dec 1.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.

Ichthyosis follicularis, a distinct cutaneous entity reported in combination with atrichia, and photophobia has been associated with mutations in MBTPS2. We sought the genetic cause of a novel syndrome of ichthyosis follicularis, bilateral severe sensorineural hearing loss and punctate palmoplantar keratoderma in two families. We performed whole exome sequencing on three patients from two families. Read More

JAAD Case Rep 2018 Nov 2;4(10):993-995. Epub 2018 Nov 2.

Department of Dermatology, Getulio Vargas University Hospital, Amazonas, Brazil.

Int J Clin Pediatr Dent 2018 Jul-Aug;11(4):352-355. Epub 2018 Aug 1.

Diplomate and Vice Dean, Division of Periodontics, Department of Preventive Dental Sciences, College of Dentistry, Jazan University, Jazan, Kingdom of Saudi Arabia.

Papillon-Lefèvre is an autosomal recessive syndrome that starts in early periods of childhood. Characteristic features include palmar plantar hyperkeratosis, aggressive periodontal disease, and a tendency for dry and chopped skin, thin and sparse hair. Patients show signs of premature tooth loss at the age of 2 to 4 years, which is then followed by the loss of permanent dentition during adolescence. Read More

Br J Dermatol 2018 Jan 2. Epub 2018 Jan 2.

Blizard Institute, Queen Mary University of London, London, U.K.

Background: Arrhythmogenic cardiomyopathy (AC) is an inherited, frequently underdiagnosed disorder, which can predispose individuals to sudden cardiac death. Rare, recessive forms of AC can be associated with woolly hair and palmoplantar keratoderma, but most autosomal dominant AC forms have been reported to be cardiac specific. Causative mutations frequently occur in desmosomal genes including desmoplakin (DSP). Read More

J Dermatol 2019 Jan 31;46(1):61-64. Epub 2018 Oct 31.

Department of Dermatology, University of Tokyo Graduate School of Medicine, Tokyo, Japan.

Sézary syndrome (SS) is defined by erythroderma and circulating atypical T cells, with or without lymphadenopathy. Recently, Thompson et al. identified a distinct population of SS patients with an atypical presentation: a high blood tumor burden of Sézary cells fulfilling criteria for SS but without fulfilling the criteria for erythroderma at the diagnosis. Read More

J Pharmacol Exp Ther 2019 Jan 30;368(1):21-31. Epub 2018 Oct 30.

Department of Pharmacology, School of Pharmacy, Qingdao University, Qingdao, China

The temperature-sensitive and calcium-permeable transient receptor potential vanilloid 3 (TRPV3) channel abundantly expressed in keratinocytes plays important functions in skin physiology. Dysfunctional gain-of-function gene mutations cause genetic Olmsted syndrome characterized by periorificial keratoderma, palmoplantar keratoderma, inflammation, and severe itching, which suggests that pharmacological inhibition of overactive TRPV3 function may be beneficial in treating pruritus or skin disorders. To test this hypothesis, we identified natural compound forsythoside B as a TRPV3 inhibitor through screening of human embryonic kidney 293 (HEK293) cells expressing human TRPV3 channels in a calcium fluorescent assay. Read More

JAAD Case Rep 2018 Oct 12;4(9):950-952. Epub 2018 Oct 12.

Department of Dermatology, American University of Beirut, Beirut, Lebanon.

BMJ Case Rep 2018 Oct 24;2018. Epub 2018 Oct 24.

All India Institute of Medical Sciences, New Delhi, Delhi, India.

Pediatr Int 2018 Oct;60(10):987-989

Department of Pediatric Cardiology and Pediatric Dermatology, Marmara University Faculty of Medicine, Istanbul, Turkey.

Br J Dermatol 2018 Oct 19. Epub 2018 Oct 19.

Department of Dermatology, University of Freiburg, Freiburg, Germany.

J Invest Dermatol 2019 Feb 12;139(2):380-390. Epub 2018 Oct 12.

Laboratory of Genetic Skin Diseases, INSERM Imagine Institute, Paris, France; University Paris Descartes, Paris, France; Department of Genetics, Necker-Enfants Malades Hospital, Paris, France. Electronic address:

Investigation of genetic determinants of Mendelian skin disorders has substantially advanced understanding of epidermal biology. Here we show that mutations in PERP, encoding a crucial component of desmosomes, cause both dominant and recessive human keratoderma. Heterozygosity for a C-terminal truncation, which produces a protein that appears to be unstably incorporated into desmosomes, causes Olmsted syndrome with severe periorificial and palmoplantar keratoderma in multiple unrelated kindreds. Read More

Br J Dermatol 2018 Oct 11. Epub 2018 Oct 11.

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, U.S.A.

Pachyonychia congenita (PC) is a rare autosomal dominant disorder characterized by nail dystrophy and palmoplantar keratoderma with severe plantar pain affecting quality of life. There is no effective treatment. Heterozygous mutations in the keratin genes KRT6A, KRT6B, KRT6C, KRT16 and KRT17 have been reported as a cause of PC. Read More

J Dermatol 2018 Dec 10;45(12):1463-1467. Epub 2018 Oct 10.

Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

TGM1 is the most common gene responsible for lamellar ichthyosis. Previous studies have suggested that patients with lamellar ichthyosis carrying two missense mutations in TGM1 show significantly less severe phenotypes than those with at least one truncating mutation in TGM1. Here, we report a patient with severe lamellar ichthyosis who was compound heterozygous for TGM1 missense mutations, including a novel one. Read More

Clin Exp Dermatol 2018 Oct 4. Epub 2018 Oct 4.

Alan Lyell Centre for Dermatology, Queen Elizabeth University Hospital, Glasgow, UK.

Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell-fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due to mutations in the keratin 1 gene, KRT1. Epidermolytic ichthyosis (EI), the major keratinopathic ichthyosis, is characterized by congenital erythroderma, blistering and erosions of the skin. Read More

J Eur Acad Dermatol Venereol 2019 Feb 23;33(2):277-280. Epub 2018 Oct 23.

Department of Dermatology and Venereology, Third Military Medical University, Chongqing, China.

First reported from Taiwan mistakenly as acral acanthosis nigricans in 1991, pigmented carpotarsal hyperkeratosis or hyperkeratosis nigricans carpi et tarsi displays a peculiar distribution of velvety brown-grey hyperpigmented plaques symmetrically on the flexural side of the wrists and ankles and on the dorsal sides of the hands and feet. A marked epidermal hyperkeratosis with typically mild acanthosis and papillomatosis is observed in histology. Whitish maceration upon perspiration or water exposure, with exacerbation in summer but remission in winter, is common. Read More

Clin Exp Dermatol 2018 Sep 27. Epub 2018 Sep 27.

Department of Plastic Surgery, Canniesburn Unit, Glasgow Royal Infirmary, Glasgow, UK.

Indian Dermatol Online J 2018 Sep-Oct;9(5):309-313

Department of Dermatology, Venereology and Leprosy, Pramukh Swami Medical College, Karamsad, Gujarat, India.

Background: Palmoplantar dermatoses are commonly found in dermatological practice. Quality of life (QOL) is severely impaired if these areas are affected. Early and appropriate management of palmoplantar dermatoses help in improving patient's QOL. Read More

Br J Dermatol 2019 Feb 4;180(2):415-416. Epub 2018 Nov 4.

Department of Dermatology, Hirosaki University Graduate School of Medicine, 5 Zaifu-cho, Hirosaki, 036-8562, Japan.

J Peripher Nerv Syst 2018 Dec 16;23(4):241-248. Epub 2018 Oct 16.

Neurology, The Johns Hopkins School of Medicine, Baltimore, Maryland.

Nociceptin/orphanin FQ opioid peptide (NOP)-receptor (NOP-R) is a member of the opioid receptor family. NOP-R activation has demonstrated analgesic effects in preclinical pain models without the addiction risks associated with other opiate targets. Pachyonychia congenita (PC) is a palmoplantar keratoderma characterized by neuropathic pain in affected skin. Read More

Clin Exp Dermatol 2019 01 16;44(1):88-91. Epub 2018 Sep 16.

Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, 100034, China.

Mol Ther Nucleic Acids 2018 Sep 2;12:220-228. Epub 2018 Jun 2.

Department of Genetics, Research Center for Molecular Medicine, Institute of Cell Biology, Key Laboratory of Reproductive Genetics, Ministry of Education, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China. Electronic address:

CRISPR/Cas9 has been confirmed as a distinctly efficient, simple-to-configure, highly specific genome-editing tool that has been used to treat monogenetic disorders. Epidermolytic palmoplantar keratoderma (EPPK) is a common autosomal dominant keratin disease resulting from dominant-negative mutation of the KRT9 gene, and it has no effective therapy. We performed CRISPR/Cas9-mediated treatment on a knockin (KI) transgenic mouse model that carried a small indel heterozygous mutation of Krt9, c. Read More

An Bras Dermatol 2018 Sep-Oct;93(5):771-772

Dermatology Service, Hospital Universitário Professor Edgard Santos, Universidade Federal da Bahia, Salvador (BA), Brazil.

An Bras Dermatol 2018 Sep-Oct;93(5):723-725

Department of Dermatology, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre (RS), Brazil.

Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured areas. Family evaluation revealed that his mother and other family members were affected. Read More

Pediatr Dermatol 2018 Nov 28;35(6):e414-e415. Epub 2018 Aug 28.

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

Annular epidermolytic ichthyosis (AEI; Online Mendelian Inheritance in Man [OMIM]# 607602) is a rare subtype of epidermolytic ichthyosis that is characterized by polycyclic, migratory erythematous and scaly plaques. It typically results from dominant mutations in the keratin 1 or keratin 10 genes. We present the case of a 5-year-old girl who developed intermittent eruptions of pink, round, scaly, migratory plaques with palmoplantar keratoderma and was originally diagnosed with erythrokeratodermia variabilis et progressiva (EKVP). Read More

J Dermatol 2018 Aug 25. Epub 2018 Aug 25.

Department of Dermatology, Hyogo College of Medicine, Nishinomiya, Japan.

Dermatol Online J 2018 Jun 15;24(6). Epub 2018 Jun 15.

Medical College of Georgia at Augusta University, Augusta, Georgia.

Background: It is important to better understand the role that environmental risk factors play on the development of esophageal cancer in Howel-Evans families. Additionally, there is little published about appropriate esophageal cancer screening practices in families genetically confirmed to have this condition.

Methods: Surveys were distributed to 47 addresses of an American family with Howel-Evans syndrome, of which 29 responded and met inclusion criteria. Read More

Presse Med 2018 Sep 19;47(9):835-836. Epub 2018 Jul 19.

Cabinet de dermatologie, Vincennes, France.

J Dermatol 2018 Sep 14;45(9):1135-1140. Epub 2018 Jul 14.

Istituto Dermopatico dell'Immacolata-IRCCS, FLMM, Rome, Italy.

The clinical features of bullous pemphigoid are extremely polymorphous. Several atypical forms of bullous pemphigoid have been described, and the diagnosis critically relies on immunopathological findings. We describe three bullous pemphigoid patients characterized by palmoplantar keratoderma, diffused hyperkeratotic cutaneous lesions and extremely high levels of immunoglobulin E serum. Read More

F1000Res 2018 27;7. Epub 2018 Jun 27.

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

The ichthyoses are a heterogeneous group of skin diseases characterized by localized or generalized scaling or both. Other common manifestations include palmoplantar keratoderma, erythroderma, recurrent infections, and hypohidrosis. Abnormal barrier function is a cardinal feature of the ichthyoses, which results in compensatory hyperproliferation and transepidermal water loss. Read More

Exp Dermatol 2018 Jul 2. Epub 2018 Jul 2.

Division of Clinical Dermatology, Department of Clinical Veterinary Medicine, Vetsuisse Faculty, University of Bern, Bern, Switzerland.

FAM83G/Fam83g genetic variants have been described in dogs, mice and recently also in humans. They are associated with palmoplantar keratoderma and altered hair or coat phenotype, reported as wooly phenotype in mice. FAM83G/Fam83g is an unexplored effector of temporally and spatially coordinated Wnt and BMP signalling which are key pathways in pre- and postnatal hair follicle morphogenesis and differentiation. Read More

Genes Genomics 2018 07 2;40(7):789-795. Epub 2018 May 2.

Department of Biology, Sungshin Women's University, Seoul, Republic of Korea.

Palmoplantar keratoderma (PPK) is a rare group of excessive skin disorder characterized by thickness over the palms and soles. The striate palmoplantar keratoderma (PPKS) is a form in which hyperkeratotic lesions are restricted to the pressure regions extending longitudinally in the length of each finger to the palm. Dominantly inherited mutations in genes including desmoglein 1, desmoplakin and keratin 1 have been suggested as genetic causes of PPKS. Read More

Presse Med 2018 Jul - Aug;47(7-8 Pt 1):704-708. Epub 2018 Jun 12.

Department of dermatology, Casablanca, Morocco.

Middle East Afr J Ophthalmol 2018 Jan-Mar;25(1):49-51

Department of Ophthalmology, University College of Medical Sciences and GTB Hospital, New Delhi, India.

Palmoplantar keratodermas (PPKs) are a rare heterogeneous group of disorders characterized by abnormal thickening of the skin of palms and soles. Ocular manifestations reported with palmer planter keratosis include scleral melanosis, macular deposits, and congenital cataract. We report, for the first time, a case of bilateral keratoconus in a patient with PPK. Read More