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Indian J Dermatol 2019 Mar-Apr;64(2):149-151

Department of Dermatology, Medical College, Kolkata, West Bengal, India.

Dermatopathia pigmentosa reticularis is a rare ectodermal dysplasia that presents with a triad of reticulate hyperpigmentation, nonscarring alopecia, and nail dystrophy. We report herein a case of a 23-year-old male presenting with the characteristic triad associated with anhidrosis and palmoplantar keratoderma. Read More

Indian J Dermatol 2019 Mar-Apr;64(2):143-145

Department of Medical Genetics, Institute of Genomics and Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

Hereditary ectodermal dysplasias, a group of disorders affecting skin, hair, nails, and teeth, consist of two main clinical forms - hypohidrotic and hidrotic. Clouston syndrome is a hidrotic ectodermal dysplasia characterized by a triad of generalized hypotrichosis, palmoplantar hyperkeratosis, and nail dystrophy. This paper reports a large Indian family with Clouston syndrome but with the absence of palmoplantar keratoderma, one of the features of the typical triad, thus representing phenotypic heterogeneity, in spite of the presence of a common known mutation in GJB6 gene (p. Read More

Br J Dermatol 2019 Apr 9. Epub 2019 Apr 9.

Department of Biomedicine, University Hospital Basel and University of Basel, Switzerland.

Naegeli-Franceschetti-Jadassohn syndrome (NFJS, OMIM #161000) and dermatopathia pigmentosa reticularis (DPR, OMIM #125595) have been defined as separate ectodermal dysplasias. Only 55 patients from nine families with NFJS and 21 patients with DPR have been published in literature. Common to both diseases are an an- or hypohidrosis as well as a reticular pattern of hyperpigmentation of the skin (Table 1). Read More

Australas J Dermatol 2019 Mar 25. Epub 2019 Mar 25.

Department of Pathology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.

Pediatr Dermatol 2019 Mar;36(2):255-257

Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.

Sci Rep 2019 Mar 14;9(1):4436. Epub 2019 Mar 14.

Department of Biological Chemistry, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.

Clathrin coats drive transport vesicle formation from the plasma membrane and in pathways between the trans-Golgi network (TGN) and endosomes. Clathrin adaptors play central roles orchestrating assembly of clathrin coats. The yeast clathrin adaptor-interacting protein Irc6 is an orthologue of human p34, which is mutated in the inherited skin disorder punctate palmoplantar keratoderma type I. Read More

J Eur Acad Dermatol Venereol 2019 Mar 13. Epub 2019 Mar 13.

FIMARAD, Filière de santé maladies rares: maladies rares en dermatologie, French rare diseases Healthcare Network, France.

Palmoplantar keratoderma (PPK) constitutes a heterogenous group of disorders that may be further subdivided into hereditary and acquired forms, characterized by hyperkeratosis of the palm and sole skin [1,2]. In recent years, the exponentially increasing use of next-generation sequencing technologies has led to the identification of several novel disease genes, substantially contributing to better comprehend PPK's molecular basis. PPK involvement may severely limit normal activities and lead to palmar retractions, digital amputations due to ischaemic strictures, and intense pain requiring major analgesic therapy. Read More

J Cosmet Dermatol 2019 Mar 12. Epub 2019 Mar 12.

Department of Dermatology, the First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.

Background: Pachyonychia congenita (PC), a rare autosomal dominant disorder, is featured by significant hypertrophic nail, palmoplantar keratoderma, and plantar pain. It is caused by the mutation of KRT6A, KRT6B, KRT6C, KRT16, or KRT17.

Aims: To identify the gene mutation caused the PC in a Chinese family. Read More

Br J Dermatol 2019 Mar 1. Epub 2019 Mar 1.

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

Striate palmoplantar keratoderma (SPPK) (OMIM 148700) is an autosomal dominant genodermatosis characterized by linear hyperkeratosis of the volar aspects of the fingers extending onto the palm, associated with focal to diffuse hyperkeratosis of the soles. It is caused by heterozygous mutations in four different genes: desmoglein 1 (DSG1), desmoplakin (DSP), keratin 1 (KRT1) and keratin 16 (KRT16). We report three families, one Scottish, one English and one American, with autosomal dominant PPK, due to three previously unreported DSG1 mutations, where the presence of a striate pattern appears linked to the severity of the phenotype. Read More

Br J Dermatol 2019 Feb 28. Epub 2019 Feb 28.

Institute for Human Genetics, Medical Center - University of Freiburg, Freiburg, Germany.

Cutaneous mosaicism is a common phenomenon resulting from postzygotic mutations. Mosaic skin lesions are manifold, and they may be accompanied by abnormalities of other organs. Here we investigated a young man with complex clinical features as part of a mosaic phenotype. Read More

JAAD Case Rep 2019 Mar 12;5(3):219-221. Epub 2019 Feb 12.

Department of Dermatology and Pathology, University of Iowa Hospitals and Clinics, Iowa City, Iowa.

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 2019 Mar 4;33(3):e137-e138. Epub 2018 Dec 4.

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, U.K.

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 2019 Apr 19;180(4):931-932. Epub 2018 Dec 19.

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

Foot (Edinb) 2018 Sep 15;36:43-48. Epub 2018 Mar 15.

Department of Health and Management, National Institute for Physical Education of Catalonia (INEFC) - Lleida Centre, University of Lleida, Lleida, Spain.

Tactile information picked up by plantar receptors provides afferent sensory information that is fundamental for controlling body balance. Plantar hyperkeratoses may alter the quality and quantity of such information, thereby modifying balance.

Aim: Analyse how plantar hyperkeratosis debridement affects static body balance in subjects of 65 years of age or older. Read More

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

J Cutan Pathol 2019 Jan 5;46(1):74-79. Epub 2018 Nov 5.

Department of Dermatology, University of Florida College of Medicine, Gainesville, Florida.

Collagenous and elastotic marginal plaques of the hand (CEMPH) is a rare, chronic keratoderma characterized by hyperkeratotic linear plaques located along the radial and ulnar aspects of the hands bilaterally. As an isolated finding, CEMPH occurs secondarily to chronic trauma and photodamage. Herein, CEMPH is described as a manifestation of alkaptonuria (AKU). 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.