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    2697 results match your criteria Keratosis Palmaris et Plantaris

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    Modeling the Structure of Keratin 1 and 10 Terminal Domains and their Misassembly in Keratoderma.
    J Invest Dermatol 2017 May 16. Epub 2017 May 16.
    Institute of Medical Biology (A*STAR) & Skin Research Institute of Singapore, Immunos, 8A Biomedical Grove, Singapore 138648.
    The terminal domains of suprabasal keratins of the skin epithelium are very resistant to evidence-based structural analysis because of their inherent flexibility and lack of predictable structure. We present a model for the structure and interactions of the head and tail domains of epidermal keratins K1 and K10, based on all-atom 3D simulations of keratin primary amino acid sequences, and tyrosine phosphorylation predictions, extracted from published databases. We observed that K1 and K10 end domains are likely to form a tetrameric terminal domain complex (TTDC) incorporating a reversibly extendable region potentially acting as a molecular spring. Read More

    Unilateral Linear Punctate Palmoplantar Keratoderma: A Case Report.
    Case Rep Dermatol 2017 Jan-Apr;9(1):86-89. Epub 2017 Mar 29.
    bAtopy (Allergy) Research Center, Juntendo University Graduate School of Medicine, Tokyo, Japan.
    Punctate palmoplantar keratoderma (PPPK) is a rare entity with an estimated prevalence rate of 1.17/100,000. PPPK usually presents with bilateral asymptomatic, tiny, hyperkeratotic punctate papules and plaques on the palmoplantar surface. Read More

    Electrical Storm or Naxos Syndrome in an Adult Causing Recurrent Syncope.
    J Coll Physicians Surg Pak 2017 Apr;27(4):250-251
    Department of Cardiology, Punjab Institute of Cardiology, Lahore.
    Among the rare and well-known causes of sudden cardiac death by malignant arrthymias is a condition called arrhythmogenic right ventricular cardiomyopathy. It commonly presents with right ventricular dilatation, dysfunction and ventricular tachycardia of left bundle branch morphology due to fibro-fatty infiltration of right ventricle in second to fifth decade of life, making it an unrecognized and important cause of sudden cardiac death. Two rare variants of arrhythmogenic right ventricular cardiomyopathy are Carvajal syndrome and Naxos syndrome. Read More

    Exfoliative erythroderma and palmoplantar hyperkeratosis associated with Majocchi's granuloma by Trichophyton tonsurans in a patient with AIDS.
    Rev Iberoam Micol 2017 Apr 24. Epub 2017 Apr 24.
    Dermatology, Hospital Geral Policlínica do Rio de Janeiro and Instituto Nacional de Infectologia (INI) Fundação Oswaldo Cruz (FIOCRUZ), Rio de Janeiro, Brazil.
    Background: Dermatophytoses are skin superficial mycoses in which clinical manifestations are directly related to the virulence of the infecting microorganism or the host immunity.

    Case Report: We describe a severe case of dermatophytosis associated with exfoliative erythroderma, substantial palmoplantar keratoderma, onychodystrophy affecting all nails, diffuse non-scarring alopecia and tissue fungal invasion by Trichophyton tonsurans, which led us to the diagnosis of AIDS. Direct examination and culture for fungi from skin scraping from two different sites were performed. Read More

    Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families.
    Am J Hum Genet 2017 May 27;100(5):737-750. Epub 2017 Apr 27.
    Division of Human Genetics, School of Pathology and the Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg 2193, South Africa. Electronic address:
    Keratolytic winter erythema (KWE) is a rare autosomal-dominant skin disorder characterized by recurrent episodes of palmoplantar erythema and epidermal peeling. KWE was previously mapped to 8p23.1-p22 (KWE critical region) in South African families. Read More

    Olmsted Syndrome in a Family.
    Int J Trichology 2016 Oct-Dec;8(4):168-170
    Department of Dermatology, Central Hospital, Secunderabad, Telangana, India.
    Olmsted syndrome (OS) is a rare disorder characterized by the combination of periorificial, keratotic plaques, and bilateral palmoplantar keratoderma. Synonyms are mutilating palmoplantar keratoderma with periorificial keratotic plaques (ORPHA659, MIM #614594 and #300918). A number sign (#) is used with this entry because of evidence that mutilating palmoplantar keratoderma with periorificial keratotic plaques (OS) is caused by heterozygous mutation in the TRPV3 gene on chromosome 17p13. Read More


    A hypomorphic Egfr allele does not ameliorate the palmoplantar keratoderma caused by SLURP1 deficiency.
    Exp Dermatol 2017 Apr 18. Epub 2017 Apr 18.
    Divisions of Cardiology, University of California, Los Angeles, CA, 90095.
    Mutations in SLURP1, a secreted protein of keratinocytes, cause a palmoplantar keratoderma (PPK) known as mal de Meleda. Slurp1 deficiency in mice faithfully recapitulates the human disease, with increased keratinocyte proliferation and thickening of the epidermis on the volar surface of the paws. There has long been speculation that SLURP1 serves as a ligand for a receptor that regulates keratinocyte growth and differentiation. Read More

    A novel link between keratoderma and cardiomyopathy: Contiguous gene deletion involving the desmoglein gene cluster.
    Br J Dermatol 2017 Apr 13. Epub 2017 Apr 13.
    Institute of Genetic Medicine, Centre for Life, Newcastle upon Tyne, NE1 3BZ.
    Desmocollin and desmoglein proteins are important in intercellular adhesion in both the skin and the heart.(1) Heterozygous mutations in desmocollin 2 (DSC2)(2) and desmoglein 2 (DSG2)(3) can both result in desmosomal dysfunction in cardiomyocytes, leading to development of fibro-fatty tissue, termed arrythmogenic right ventricular cardiomyopathy (ARVC). Heterozygous truncating mutations in desmoglein 1 (DSG1), an intervening gene, can present as a striate palmoplantar keratoderma, whilst homozygous DSG1 mutations can cause severe dermatitis, allergies and metabolic wasting. Read More

    Paraneoplastic palmoplantar keratoderma secondary to metastatic uterine adenocarcinoma.
    Cutis 2017 Mar;99(3):E32-E35
    Department of Dermatology, State University of New York Downstate, Brooklyn, USA.
    Palmoplantar keratoderma (PPK) is a dermatosis that presents as hyperkeratosis of the palms and soles. It may be acquired or heritable. Acquired PPK often occurs as a paraneoplastic response as well as a stigma of other dermatoses. Read More

    Identification of a heterozygous p.Gly568Val missense mutation in the TRPV3 gene in a Japanese patient with Olmsted syndrome: In silico analysis of TRPV3.
    J Dermatol 2017 Apr 9. Epub 2017 Apr 9.
    Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
    Olmsted syndrome is a very rare congenital disorder, characterized by palmoplantar keratoderma and periorificial keratotic lesions. Recently, TRPV3 was reported to be a causative gene of Olmsted syndrome. We identified a heterozygous missense mutation of TRPV3, c. Read More

    The Ca2+-permeable cation TRPV3 channel: an emerging pivotal target for itch and skin diseases.
    Mol Pharmacol 2017 Apr 4. Epub 2017 Apr 4.
    Qingdao University
    Temperature-sensitive transient receptor potential (thermo-TRP) channels such as TRPA1 and TRPV1 have been indicated as downstream ion channel targets in transduction of itch. As a member of thermos-TRPs, Ca2+-permeable nonselective cation TRPV3 channels are expressed abundantly in the skin keratinocytes. Recent identification of gain-of-function mutations of human TRPV3 from patients with Olmsted Syndrome characterized by severe itching and palmoplantar and periorificial keratoderma unveils its crucial role in chronic itch and skin diseases. Read More

    Whole Exome Sequencing Identified a Novel Frameshift Mutation in SDR9C7 underlying Autosomal Recessive Congenital Ichthyosis in a Pakistani Family.
    Br J Dermatol 2017 Mar 31. Epub 2017 Mar 31.
    Medical Genetics Research Laboratory, Department of Biotechnology, Quaid-I-Azam University, Islamabad, Pakistan.
    Autosomal Recessive Congenital Ichthyosis (ARCI) is a group of cornification disorders (prevalence 1:200,000) broadly divided into three classes namely Harlequin Ichthyosis (HI; OMIM#242500), Lamellar Ichthyosis (LI; OMIM#242304) and Congenital Ichthyosiform Erythroderma (CIE; OMIM#242100). ARCI clinical features include generalized scaling, hypohidrosis and palmo-plantar hyperlinearity although presentation and severity may vary significantly. A large number of affected individuals present with collodion membrane at birth. Read More

    Disseminated punctate keratoderma: a rare case report and review of the literature.
    Dermatol Online J 2017 Mar 15;23(3). Epub 2017 Mar 15.
    Boston University School of Medicine, Boston, Massachusetts.
    We report a rare case of a 53-year-old womanpresenting with diffuse, late-onset disseminatedhyperkeratotic papules. Biopsy showed massivehyperkeratosis overlying a crateriform epidermaldepression and hypergranulosis with mild epidermalhyperplasia. There was no parakeratosis, cornoidlamella, or dyskeratosis. Read More

    Gabapentin-induced aquagenic wrinkling of the palms.
    Dermatol Online J 2017 Jan 15;23(1). Epub 2017 Jan 15.
    Bezmialem Vakif University, Dermatology, Istanbul, Turkey.
    Aquagenic keratoderma (AK) or aquagenic wrinklingis a rare palmoplantar skin disease. It is sporadic orhereditary condition. It appears in childhood or youngadulthood and it is seen as multiple asymptomaticsmall shiny papules on the peripheral margin ofpalms and/or soles after submersion in water. Read More

    [Gene mutational analyses of the cathepsin C gene in families with Papillon-Lefèvre syndrome].
    Hua Xi Kou Qiang Yi Xue Za Zhi 2016 Aug;34(4):346-349
    Dept. of Stomatology, Chengdu Military General Hospital, Chengdu 610017, China.
    Objective: This study aims to investigate the gene mutational characteristics of cathepsin C (CTSC) gene in a Chinese patient with Papillon-Lefèvre syndrome (PLS), then further confirm the genetic basis for the phenotype of PLS, and obtain genetic information that can be used as guide in the diagnosis and treatment of PLS.

    Methods: With their consent, peripheral blood samples were obtained from the proband and his family members (his parents and older sister) for genomic DNA extraction. The coding region and exon/intron boundaries of the CTSC gene were amplified and sequenced using poly-merase chain reaction and direct sequencing of DNA. Read More

    Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14.
    Br J Dermatol 2017 Mar 16. Epub 2017 Mar 16.
    St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
    Pityriasis rubra pilaris (PRP) represents a group of rare chronic inflammatory skin disorders in which ~1 in 20 affected individuals show autosomal dominant inheritance. In such cases, there may be gain-of-function mutations in CARD14, encoding caspase recruitment domain-containing protein 14 (CARD14) that activates the non-canonical nuclear factor-kappa B (NF-κB) pathway, thereby promoting cutaneous inflammation. Here, we report a mother and son with PRP due to a new missense mutation in CARD14 and describe the beneficial clinical effects of ustekinumab, a monoclonal antibody against interleukins-12 and -23, in both subjects. Read More

    Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma.
    Clin Exp Dermatol 2017 Apr 27;42(3):316-319. Epub 2017 Feb 27.
    St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK.
    Punctate palmoplantar keratoderma type 1 (PPPK1) is a rare autosomal dominant inherited skin disease, characterized by multiple hyperkeratotic lesions on the palms and soles. The causative gene for PPPK1 has been identified as AAGAB, which encodes α- and γ-adaptin-binding protein p34. We describe the clinical features in three unrelated families with PPPK1, and report three recurrent causative mutations in AAGAB. Read More

    A case of mosaicism in ectodermal dysplasia - skin fragility syndrome.
    Br J Dermatol 2017 Feb 9. Epub 2017 Feb 9.
    Department of Dermatology, Hospital Infantil del Niño Jesús, Madrid, Spain.
    Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is an autosomal recessive genodermatosis characterized by skin fragility, chronic cheilitis, palmoplantar keratoderma, abnormal hair growth and nail dystrophy. ED-SFS is caused by mutations in the PKP1 gene encoding pakophilin-1 (PKP1), which results in desmosomal abnormality and poor intercellular cohesion between the epidermal cells. We report a case of a 2-year-old girl with unilateral superficial erosions, plantar keratoderma and nail dystrophy, all showing a Blaschko-linear arrangement. Read More

    Decreases in 15-lipoxygenase metabolites in Olmsted syndrome model rats.
    J Dermatol Sci 2017 Mar 15;85(3):186-196. Epub 2016 Dec 15.
    Laboratory of Biochemistry, Graduate School of Life Science, Hokkaido University, Sapporo 060-0812, Japan; Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido University, Sapporo 060-0812, Japan. Electronic address:
    Background: Olmsted syndrome (OS) is a congenital dermatosis characterized by palmoplantar keratoderma and periorificial keratotic plaque. TRPV3 (transient receptor potential vanilloid subtype 3) encodes a thermosensitive Ca(2+) channel and is the causative gene of OS. However, the molecular mechanism that causes the pathological development of OS is unclear. Read More

    Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
    J Invest Dermatol 2017 Apr 23;137(4):845-854. Epub 2016 Dec 23.
    MRC Laboratory for Molecular Cell Biology, University College London, London, UK; Institute of Child Health, University College London, London, UK; Inherited Metabolic Diseases Unit, Great Ormond Street Hospital, London, UK. Electronic address:
    In this paper, we report three patients with severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness. Biallelic mutations were found in VPS33B, encoding VPS33B, a Sec1/Munc18 family protein that interacts with Rab11a and Rab25 proteins and is involved in trafficking of the collagen-modifying enzyme LH3. Two patients were homozygous for the missense variant p. Read More

    Palmoplantar Keratoderma in Costello Syndrome Responsive to Acitretin.
    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

    Desmosomes and corneodesmosomes and their relevance to genetic skin diseases.
    G Ital Dermatol Venereol 2017 Apr 16;152(2):148-157. Epub 2016 Dec 16.
    Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan.
    Desmosomes are critical intercellular junctions between keratinocytes in the living cell layers of the epidermis. When the cells are differentiated and become cornified cells, desmosomes are transformed into corneodesmosomes. Distribution patterns of corneodesmosomes change with cell development. Read More

    Acral manifestations of paraneoplastic and collagen vascular diseases.
    Clin Dermatol 2017 Jan - Feb;35(1):50-54. Epub 2016 Sep 10.
    Department of Dermatology, Akdeniz University, Faculty of Medicine, Antalya, Turkey. Electronic address:
    The skin often signals a number of systemic disease, making skin findings of paramount significance. Paraneoplastic diseases and collagen vascular diseases are vitally important illnesses. Paraneoplastic diseases and collagen vascular diseases may also occur with many different acral skin findings. Read More

    [Hereditary epidermolysis bullosa: French national guidelines (PNDS) for diagnosis and treatment].
    Ann Dermatol Venereol 2017 Jan 5;144(1):6-35. Epub 2016 Dec 5.
    Service de dermatologie, centre de référence des épidermolyses bulleuses héréditaires, hôpital l'Archet 2, CHU de Nice, 151, route Saint-Antoine-de-Ginestière, CS 23079, 06202 Nice cedex 3, France. Electronic address:
    Hereditary epidermolysis bullosa (EB) is a heterogeneous group of rare genetic diseases characterized by fragile skin and/or mucous membrane, and it may be either local or generalized. It is caused by mutations in genes encoding different proteins involved mainly in the structure and function of the dermal-epidermal junction. Nineteen genes have so far been identified. Read More

    Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation.
    Cancer Genet 2016 Nov 29;209(11):515-524. Epub 2016 Oct 29.
    People's Hospital of Xinjiang Uygur Autonomous Region, China.
    Epidermolytic palmoplantar keratoderma (EPPK) is a rare autosomal dominant skin disorder characterized by diffuse hyperkeratosis on the palms and soles. Whole-exome sequencing (WES) has become a powerful tool for the detection of rare causal variants of Mendelian disorders. However, no causal gene for EPPK in the Uygur population has been identified until now, and no treatment exists than can address the underlying pathology. Read More

    Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.
    Br J Dermatol 2017 May 2;176(5):1345-1350. Epub 2017 Apr 2.
    Department of Dermatology, University Hospital Crosshouse, Kilmarnock, U.K.
    The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterized by thickening of the epidermis of the palms and soles. No classification system satisfactorily unites clinical presentation, pathology and molecular pathogenesis. There are four patterns of hyperkeratosis - striate, focal, diffuse and punctate. Read More

    [Late onset dermatophytic disease].
    Pan Afr Med J 2016 7;24:194. Epub 2016 Jul 7.
    Service de Dermatologie CHU Ibn Rochd de Casablanca, Maroc.
    Dermatophytic disease, described for the first time in 1959 by Hadida and Schousboe, is a chronic dermatophyte infection of the skin and viscera. It is a rare disease occurring mainly in Maghreb. Immunological studies have highlighted a deficit of cellular immunity with autosomal recessive transmission responsible for tolerance to dermatophyte. Read More

    [Pachyonychia congenita associated with renal artery stenosis and bronchiectasis].
    Pan Afr Med J 2016 1;24:183. Epub 2016 Jul 1.
    Service de Néphrologie, CHU Mohamed VI, Faculté de Médecine, Université Mohamed Premier, Oujda, Maroc.
    Pachyonychia congenita (PC) is a rare hereditary disease, mainly characterized by a painful palmoplantar keratoderma, thickened nails, cysts and white lesions of the oral mucosa. Its clinical manifestations are very variable, it may appear from birth to adulthood. This study report the case of a child with pachyonychia congenita associated with bronchiectasis and renal artery stenosis. Read More

    Nagashima-type palmoplantar keratosis in a Chinese Han population.
    Mol Med Rep 2016 Nov 21;14(5):4049-4054. Epub 2016 Sep 21.
    Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.
    Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive form of palmoplantar keratoderma (PPK), which is caused by mutations in the SERPINB7 gene. NPPK has only been reported in Japanese and Chinese populations. The present study was conducted on 12 unrelated Chinese patients who were clinically predicted to suffer from NPPK. Read More

    Peripheral neuropathic changes in pachyonychia congenita.
    Pain 2016 Dec;157(12):2843-2853
    aDepartment of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA bPachyonychia Congenita Project, Salt Lake City, UT, USA cDepartment of Dermatology, University of Utah Health Sciences Center, Salt Lake City, UT, USA dDepartment of Psychiatry, The Johns Hopkins University School of Medicine, Baltimore, MD, USA eBlizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom fDepartments of Neurosurgery, Biological Chemistry, Neuroscience, and the Neurosurgery Pain Research Institute, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
    We compared patterns of intraepidermal nerve fibers and mechanoreceptors from affected and unaffected plantar skin from patients with pachyonychia congenita (PC) and control subjects. Plantar biopsies from 10 genetically confirmed patients with PC (with a mutation in KRT6A) were performed at the ball of the foot (affected skin) and the arch (unaffected) and were compared to biopsies from corresponding locations in 10 control subjects. Tissue was processed to visualize intraepidermal nerve fibers (IENF) (PGP9. Read More

    Palmoplantar Keratoderma and Charcot-Marie-Tooth: combination of two independent genetic diseases? Identification of two point mutations in CMT2 and PPK genes by whole exome sequencing.
    Br J Dermatol 2016 Sep 17. Epub 2016 Sep 17.
    Laboratory of Experimental Neurobiology, National Neurological Institute C. Mondino, Pavia, Italy.
    Importance: In the eighties a clinical and familiar condition in which two different diseases Charcot-Marie-Tooth Disease type 2 (CMT2), and Palmoplantar Keratoderma (PPK) seemed to define an interesting complex phenotype (OMIM 148360) has been described. The regular association of this phenotype and the autosomal dominant trait has suggested that this clinical condition was expression of the same mutant gene. Exome analysis has been performed in an Italian family which members were affected by CMT2, PPK and CMT/PPK. Read More

    Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy.
    Cardiovasc Diagn Ther 2016 Oct;6(5):462-465
    Department of Dermatology & Venereology, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh.
    Naxos disease is a rare autosomal recessive form of arrhythmogenic right ventricular cardiomyopathy (ARVC) with woolly hair and palmoplantar keratoderma. The cardiomyopathy presents by adolescence with syncope, ventricular tachycardia (VT) of left bundle branch block (LBBB) morphology, and/or ventricular fibrillation. The diagnosis and management of ARVC are at present in evolution; the recently published modified Task Force Criteria for diagnosis and International Task Force consensus statement for treatment of ARVC will hopefully bring about uniformity in recognition and management of Naxos disease as well. Read More

    Christ-Siemens-Touraine syndrome with palmoplantar keratoderma: A rare association.
    Indian Dermatol Online J 2016 Sep-Oct;7(5):393-395
    Department of Dermatology and Venereology, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, India.
    Christ-Siemens-Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED. Till date, only two cases have been reported of Christ-Siemens-Touraine syndrome with palmoplantar keratoderma; here we report a similar case emphasizing this rare association. Read More

    A novel mutation of KRT9 gene in a Chinese Han pedigree with epidermolytic palmoplantar keratoderma.
    J Cosmet Dermatol 2016 Oct 10. Epub 2016 Oct 10.
    Department of Dermatology, Shandong Provincial Hospital affiliated to Shandong University, Jinan, China.
    Background: Mutations of keratin 9 (KRT9) gene is a hot research area of epidermolytic palmoplantar keratoderma (EPPK).

    Aims: To identify the genes caused the EPPK of a Chinese family.

    Patients/methods: Three cases of lesions were collected for pathological examination. Read More

    Lhermitte-Duclos Disease in association with Cowden Syndrome.
    Dermatol Online J 2016 May 15;22(5). Epub 2016 May 15.
    University of Kansas School of Medicine.
    Cowden syndrome (CS) is a rare genetic disorder with autosomal dominant inheritance, linked to germline mutations in the PTEN tumor suppressor gene on chromosome 10. Cowden syndrome often co-exists with Lhermitte-Duclos disease (LDD), with LDD included as a major criterion in CD diagnosis. This case involves a woman presenting with many of the classic diagnostic criterions and associations of CD, as well as with several comorbidities and unique objective findings. Read More

    Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma.
    Dermatol Online J 2016 Apr 18;22(4). Epub 2016 Apr 18.
    Scott & White Memorial Hospital and Clinic, Texas A&M University College of Medicine.
    Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder. Read More

    Pachyonychia congenita with late onset (PC tarda).
    Indian Dermatol Online J 2016 Jul-Aug;7(4):278-80
    Department of Dermatology, Maharajah's Institute of Medical Sciences, Nellimarla, Andhra Pradesh, India.
    Pachyonychia congenita is a rare type of ectodermal dysplasia further classified into 4 types. Cutaneous manifestations seen in most of the cases of Pachyonychia congenita include palmoplantar keratoderma, follicular hyperkeratosis, wedge shaped nails, oral leukokeratosis and woolly hair. A 25-year-old male presented to us with thickened nails and scanty scalp hair. Read More

    SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.
    Am J Med Genet A 2016 Dec 2;170(12):3165-3171. Epub 2016 Aug 2.
    Human Genetics Program, Sanford-Burnham Prebys Medical Discovery Institute, La Jolla, California.
    Increasing numbers of congenital disorders of glycosylation (CDG) have been reported recently resulting in an expansion of the phenotypes associated with this group of disorders. SRD5A3 codes for polyprenol reductase which converts polyprenol to dolichol. This is a major pathway for dolichol biosynthesis for N-glycosylation, O-mannosylation, C-mannosylation, and GPI anchor synthesis. Read More

    A Different Presentation of Mal De Meleda: New Skin Lesions in a Residual Limb after Traumatic Amputation.
    Acta Dermatovenerol Croat 2016 Jun;24(2):137-9
    Emre Adıgüzel, MD, TSK Rehabilitasyon Merkezi, 06530 Bilkent Ankara, Turkey;
    Mal de Meleda is a rare autosomal recessive skin disease which is known as keratoderma palmoplantaris transgradiens. Here we report a case of Mal de Meleda who had skin lesions in the residual limb and pseudoainhum in the thigh after traumatic lower leg amputation. A 71-year-old female was admitted to our tertiary hospital for prosthetic rehabilitation. Read More

    Keratinization Disorders and Genetic Aspects in Palmar and Plantar Keratodermas.
    Acta Dermatovenerol Croat 2016 Jun;24(2):116-23
    Rafal Czajkowski, MD, PhD, Nicolaus Copernicus University in Toruń, Faculty of Medicine, Chair of Dermatology, Sexually Transmitted Diseases and Immunodermatology, Bydgoszcz, Poland;
    Palmoplantar keratoderma (PPK) is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of the palms and soles. There are three clinical patterns: diffuse, focal, and punctuate. Palmoplantar keratodermas can be divided into the following functional subgroups: disturbed gene functions in structural proteins (keratins), cornified envelope (loricrin, transglutaminase), cohesion (plakophilin, desmoplakin, desmoglein 1), cell-to-cell communication (connexins) and transmembrane signal transduction (cathepsin C). Read More

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