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J Dermatol 2021 Jun 13. Epub 2021 Jun 13.

Department of Dermatology, Osaka City University Graduate School of Medicine, Osaka, Japan.

Palmoplantar keratoderma (PPK) is a collective term for keratinizing disorders in which the main clinical symptom is hyperkeratosis on the palms and soles. To establish the first Japanese guidelines approved by the Japanese Dermatological Association for the management of PPKs, the Committee for the Management of PPKs was founded as part of the Study Group for Rare Intractable Diseases. These guidelines aim to provide current information for the management of PPKs in Japan. Read More

J Invest Dermatol 2021 Jun 8. Epub 2021 Jun 8.

Department of Dermatology, Stanford University, Palo Alto, CA. Electronic address:

Pachyonychia congenita (PC) is a genetic disorder of keratin that presents with nail dystrophy, painful palmoplantar keratoderma, and other clinical manifestations. We investigated genotype-structurotype-phenotype correlations seen with mutations in keratin genes (KRT6A, KRT6B, KRT6C, KRT16, KRT17) and utilized protein structure modeling of high frequency mutations to examine the functional importance of keratin structural domains in PC pathogenesis. Participants of the International PC Research Registry underwent genetic testing and completed a standardized survey on their symptoms. Read More

Mycoses 2021 Jun 2. Epub 2021 Jun 2.

Cheikh Anta Diop University of Dakar, Senegal.

Background: In developing countries, superficial fungal infections (SFI) are endemic and cause a therapeutic problem because of the duration and cost of treatment. Community living and promiscuity are key factors in the direct or indirect transmission and spread of these diseases.

Objectives: The objective was to study the epidemiological aspects of SFI, among koranic school children in two localities in Senegal. Read More

Genes (Basel) 2021 May 17;12(5). Epub 2021 May 17.

Dermatology Unit and Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.

Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) is characterized by cutaneous syndactyly of the toes and fingers and abnormalities of the hair and teeth, variably associated with nail dystrophy and palmoplantar keratoderma (PPK). EDSS1 is caused by biallelic mutations in the NECTIN4 gene, encoding the adherens junction component nectin-4. Nine EDSS1 cases have been described to date. Read More

Pediatr Transplant 2021 May 20:e14023. Epub 2021 May 20.

Department of Pediatric Gastroenterology, University Medical Center Groningen, Groningen, The Netherlands.

Background: PNP is a malignancy-associated autoimmune mucocutaneous syndrome due to autoantibodies against plakins, desmogleins, and other components of the epidermis and basement membrane of epithelial tissues. PNP-causing malignancies comprise mainly lymphoproliferative and hematologic neoplasms. PNP is extremely rare, especially in children. Read More

Cureus 2021 Apr 11;13(4):e14425. Epub 2021 Apr 11.

Pediatrics, Ponce Health Sciences University School of Medicine, Ponce, PRI.

Aquagenic wrinkling of the palms (AWP), also known as aquagenic palmoplantar keratoderma, is an uncommon dermatosis characterized by transient translucent whitish papules, edema, and hyper-wrinkling of the palms and soles shortly after water immersion. Approximately up to 80% of cases reported are associated with cystic fibrosis (CF) patients and up to 25% with CF carriers. We present the case of a 16-year-old male who complains of new-onset symmetrical edematous wrinkling on his palms associated with brief water exposure. Read More

J Contemp Dent Pract 2021 Jan 1;22(1):93-100. Epub 2021 Jan 1.

Department of Anatomy and Cell Biology, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

Aim: The present review aimed to summarize and evaluate the available literature regarding the survival rate and outcomes of dental implants in patients with Papillon-Lefèvre syndrome (PLS).

Materials And Methods: An extensive search of the literature was conducted on PubMed, Scopus and Web of Science databases for all data published from January 1996 till April 2020 using a combination of the following keywords: 'Papillon Lefévre Syndrome', 'prosthodontic rehabilitation' and 'dental implant' according to the PRISMA guidelines for the focused research question constructed using the PICO criteria. Clinical trials and observational studies on implant placement in PLS patients reported in English language were included in the study. Read More

Neurol Genet 2021 Feb 12;7(1):e553. Epub 2021 Jan 12.

Department of Pediatrics (A.Y.M.-S.), Washington University in St. Louis, St. Louis, Missouri; Department of Molecular Medicine (C.S.), Arabian Gulf University, Al Jawhara Center for Molecular Medicine, Genetics and Inherited Diseases, College of Medicine and Medical Sciences, Bahrain; Division of Medical Genetics (A.G.), Department of Pediatrics, Queen's University, Kingston, Canada; Department of Pediatrics (R.H.S.J., V.N.V.), Bahrain Defense Forces Royal Medical Services Hospital, Kingdom of Bahrain; Department of Radiology (R.C.M.), Washington University in St. Louis (R.C.M.), Mallinckrodt Institute of Radiology; and Department of Pediatrics (M.S.S.), Division of Genetics and Genomic Medicine, St. Louis Children's Hospital, Missouri.

Objective: To report 6 new patients with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome.

Methods: Clinical exome or targeted sequencing were performed to elucidate the molecular genetic cause in patients with neurocognitive abnormalities and brain imaging findings.

Results: CEDNIK syndrome is a rare genetic condition caused by biallelic pathogenic loss-of-function variants in synaptosomal-associated protein 29 (), which encodes a vesicular membrane fusion protein. Read More

Acta Derm Venereol 2021 May 6. Epub 2021 May 6.

IDI-IRCCS (Istituto Dermopatico dell'Immacolata-Istituto di Ricovero e Cura a Carattere Scientifico, Dermatological Research Hospital), Via Monti di Creta 104, IT-00167 Rome, Italy.

Autosomal recessive congenital ichthyoses (ARCI) are characterized by generalized skin scaling, hyperkeratosis, erythroderma, and disabling features affecting the skin (palmoplantar keratoderma, fissures, pain, itch), eyes, ears, and joints. Disease severity and chronicity, patient disfigurement, and time and costs required for care impose a major burden on quality of life. This multicentre cross-sectional study investigated the impact of ARCI on quality of life of patients and families, using the Dermatology Life Quality Index (DLQI), the Children DLQI (CDLQI) and Family Burden of Ichthyosis (FBI) questionnaires. Read More

Mol Genet Genomic Med 2021 May 5:e1686. Epub 2021 May 5.

School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.

Background: Papilon-Lefevre syndrome (PLS; OMIM 245000) is a rare autosomal recessive disease characterized by aggressive periodontitis and palmoplantar keratoderma. The prevalence of PLS in the general population is one to four cases per million. Although the etiology and pathogenic mechanisms underlying PLS remain largely unclear, existing evidence shows loss-of-function mutations of the cathepsin C gene (CTSC; OMIM 602365) could cause PLS. Read More

J Eur Acad Dermatol Venereol 2021 Apr 29. Epub 2021 Apr 29.

Department of Dermatology and Allergology, ERN-Skin center, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.

Background: Hereditary palmoplantar keratodermas (PPK) represent a heterogeneous group of rare skin disorders with epidermal hyperkeratosis of the palms and soles, with occasional additional manifestations in other tissues. Mutations in at least 69 genes have been implicated in PPK, but further novel candidate genes and mutations are still to be found.

Objectives: To identify mutations underlying PPK in a cohort of 64 patients. Read More

Colomb Med (Cali) 2021 Mar 18;52(1):e7014577. Epub 2021 Mar 18.

Universidad San Ignacio de Loyola, Lima, Perú. Universidad San Ignacio de Loyola Universidad San Ignacio de Loyola Lima Peru.

Case Description: 32-month-old boy, IgG positive for SARS-CoV-2, presented to the emergency department with dermatologic lesions.

Clinical Findings: Four days before admission, he presented skin eruptions with redness and pruritus on hands and feet. Generalized papular erythema was evidenced, upper extremities with diffuse erythematosquamous plaques, palmoplantar keratoderma, so he was evaluated by a dermatologist who diagnosed pityriasis rubra pilaris. Read More

Zhonghua Yi Xue Za Zhi 2021 Apr;101(16):1128-1131

Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China.

Progressive symmetric erythrokeratodermia (PSEK) comprises a group of clinically and genetically heterogeneous diseases. Previous research have identified 3 and 4 as the leading genetic causes of this disorder. With the rapid development of genetics, 1, , 83 and 4 have been identified as the new causative genes for PSEK, leading to a further understanding of its clinical features and genetic mechanisms. Read More

Eur J Dermatol 2021 Apr;31(2):264-265

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

Indian J Dermatol Venereol Leprol 2021 Apr 12:1-2. Epub 2021 Apr 12.

Unidad de Gestión Clínica de Dermatología Médico-Quirúrgica y Venereología, Puerta Del Mar University Hospital, Cádiz, Spain.

N Engl J Med 2021 Apr;384(15):1447

Universitätsklinikum Leipzig, Leipzig, Germany

Exp Dermatol 2021 Mar 31. Epub 2021 Mar 31.

Division of Dermatology and Pediatric Dermatology Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Autosomal recessive congenital ichthyosis (ARCI) is a rare and heterogeneous skin cornification disorder presenting with generalized scaling and varying degrees of erythema. Clinical manifestations range from lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE) through the most severe form of ARCI, Harlequin ichthyosis (HI). We used homozygosity mapping, whole-exome and direct sequencing to delineate the relative distribution of pathogenic variants as well as identify genotype-phenotype correlations in a cohort of 62 Middle Eastern families with ARCI of various ethnic backgrounds. Read More

J Cutan Med Surg 2021 Mar 28:12034754211004560. Epub 2021 Mar 28.

12366 Division of Dermatology, Department of Medicine, University of Toronto, Canada.

Background: Palmoplantar keratoderma (PPK) are a heterogenous group of hereditary and acquired disorders that are characterized by excessive epidermal thickening of the palms and/or soles. PPK has been described as a rare adverse event for some medications. The aim of this systematic review was to summarize outcomes in PPK associated with various medications. Read More

Acta Dermatovenerol Alp Pannonica Adriat 2021 Mar;30(1):47-48

Instituto Tecnológico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Mexico.

Buschke-Fischer-Brauer (BFB) disease is a rare keratoderma characterized by multiple hyperkeratotic lesions on the palms and soles, with an autosomal dominant pattern. In several countries, some genetic alterations have been associated with this clinical entity. A 68-year-old Peruvian woman presenting with hyperkeratotic lesions on both her palms and soles was diagnosed with BFB keratoderma. Read More

Int J Gen Med 2021 17;14:903-907. Epub 2021 Mar 17.

Department of Dermatology, First Hospital of Shanxi Medical University, Taiyuan, People's Republic of China.

Background: Pachyonychia congenita (PC) is a rare, autosomal dominant genodermatosis characterized by palmoplantar keratoderma, nail dystrophy, cystic lesions, follicular hyperkeratosis, mucosal leukokeratoses, hyperhidrosis, hoarseness, and, rarely, natal teeth. Five keratin genes, and , have been found to be associated with PC.

Methods: Using polymerase chain reaction and Sanger sequencing techniques, the purpose of the present study was to investigate the clinical features associated with PC and discover disease-associated variants. Read More

J Invest Dermatol 2021 Mar 16. Epub 2021 Mar 16.

Bioengineering Department, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, Moscow, Russia; Phystech School of Biological and Medical Physics, Moscow Institute of Physics and Technology (National Research University), Moscow Russia; Faculty of Biology, Lomonosov Moscow State University, Moscow, Russia. Electronic address:

Mal de Meleda is an autosomal recessive palmoplantar keratoderma associated with mutations in a gene encoding SLURP-1. SLURP-1 controls growth, differentiation, and apoptosis of keratinocytes by interaction with α7-type nicotinic acetylcholine receptors. SLURP-1 has a three-finger structure with a β-structural core (head) and three prolonged loops (fingers). Read More

J Invest Dermatol 2021 Mar 3. Epub 2021 Mar 3.

Department of Dermatology, Peking University First Hospital, Beijing, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China; National Clinical Research Center for Skin and Immune Diseases, Beijing, China; Peking-Tsinghua Center for Life Sciences, Beijing, China; Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China. Electronic address:

Gain-of-function mutations in the TRPV3 gene can cause Olmsted syndrome characterized by palmoplantar and periorificial keratoderma, itch, and hair loss. The mechanism underlying the hair loss remains unclear. In this study, we engineered an Olmsted syndrome mouse model by introducing the point mutation G568V to the corresponding Trpv3 locus in the mice. Read More

Genes (Basel) 2021 Feb 26;12(3). Epub 2021 Feb 26.

Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.

Elongation of Very Long Chain Fatty Acid-4 (ELOVL4) is a fatty acid elongase responsible for very long-chain fatty acid biosynthesis in the brain, retina, and skin. Heterozygous mutations in gene cause Stargardt-like macular dystrophy and spinocerebellar ataxia type-34, while different homozygous mutations have been associated with ichthyosis, spastic quadriplegia, and mental retardation syndrome in three kindred. We report the first two Italian children affected with neuro-ichthyosis due to the previously undescribed homozygous frameshift variant c. Read More

Orthop Rev (Pavia) 2020 Dec 1;12(4):8868. Epub 2021 Feb 1.

Department of Orthopaedic Surgery (DICHIRONS), Università degli Studi di Palermo.

Vohwinkel Syndrome, also known as Keratoderma Hereditarium Mutilans, is an extremely rare dominant autosomal keratosis. It typically presents with "starfish" keratoses on the knuckles, palmoplantar keratoderma (PPK), hearing impairment and mutilating digital constriction bands (pseudoainhum) that cause strangulation, often leading to autoamputation of the affected digit. Both medical and surgical treatment haven't shown to date consistent results, in the treatment of pseudoainhum. Read More

Pediatr Dermatol 2021 Jan;38(1):283-284

Division of Dermatology, Department of Pediatrics, CHU Sainte-Justine, Université de Montreal, Montreal, QC, Canada.

J Dermatol 2021 May 25;48(5):e207-e209. Epub 2021 Feb 25.

Department of Dermatology, Ijinkai General Hospital, Kyoto, Japan.

Med J Aust 2021 04 24;214(6):258. Epub 2021 Feb 24.

Royal Melbourne Hospital, Melbourne, VIC.

J Dermatol 2021 Apr 13;48(4):537-541. Epub 2021 Feb 13.

Department of Dermatology, Venereology and Allergy, Medical University of Innsbruck, Innsbruck, Austria.

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive genodermatosis characterized by palmoplantar keratoderma and severe periodontitis leading to premature loss of primary and permanent teeth. PLS is caused by loss-of-function mutations in CTSC, lacking functional cathepsin C, which impairs the activation of neutrophil serine proteases. Precise pathogenesis of periodontal damage is unknown. Read More

Hautarzt 2021 Mar 12;72(3):215-224. Epub 2021 Feb 12.

Klinik und Poliklinik für Dermatologie und Allergologie, Klinikum der Universität München LMU, Frauenlobstr. 9-11, 80337, München, Deutschland.

Dermatoses of the hands and feet cover a wide range of skin diseases that can occur in children and adolescents and are a frequent question in dermatological practice. Our synopsis of the most important differential diagnoses and their treatment is intended to provide better orientation for daily practice. A precise and detailed history is essential to establish a diagnosis, followed by clinical examination and specific examination methods. Read More

Biomed Res Int 2021 27;2021:8841994. Epub 2021 Jan 27.

Department of Orthopaedics, West China Hospital of Sichuan University, No. 37 Guoxue Alley, Wuhou District, Chengdu, 610041 Sichuan, China.

Nagashima-type palmoplantar keratosis (NPPK) is the most prevalent palmoplantar keratoderma (PPK) in East Asia. Homozygous or compound heterozygous loss-of-function mutations in serpin peptidase inhibitor, clade B (ovalbumin), and member 70 (SERPINB7), which encodes members of the serine protease inhibitor superfamily, have been identified as the cause of NPPK. Clinical manifestations of NPPK include well-demarcated erythema, mild to moderate hyperkeratosis on the whole palm, and sole with transgrediens, extending to the dorsal surfaces of the hands and feet, inner wrists, ankles, and the Achilles tendon areas. Read More