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Actas Dermosifiliogr 2022 Jun 26;113(6):652-653. Epub 2021 Jul 26.

Servicio de Dermatología, Hospital Universitario San Cecilio, Granada, España; Instituto de Investigación Biosanitaria Ibs Granada, Granada, España. Electronic address:

Adv Skin Wound Care 2022 Jun;35(6):1-4

Paul Vance, DO, is Resident Physician, Piedmont Healthcare, Macon, Georgia. At the Mayo Clinic, Rochester, Minnesota, Saranya Wyles, MD, PhD, is Resident Physician and Afsaneh Alavi, MD, is Consultant Physician. The authors have disclosed no financial relationships related to this article. Submitted June 15, 2021; accepted in revised form July 30, 2021.

Abstract: Pityriasis rubra pilaris (PRP) is a rare, chronic papulosquamous disorder that presents with scaling plaques, palmoplantar keratoderma, and keratotic follicular papules. Typically, there are distinctive unaffected areas referred to as "islands of sparing." Pityriasis rubra pilaris has been associated with various immunodeficient states and malignancies. Read More

Clin Genet 2022 Jun 14. Epub 2022 Jun 14.

Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

Crisponi / cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by episodic hyperthermia, arthrogryposis, impaired feeding ability, and respiratory distress. The classic CS/CISS is mainly associated with CRLF1 and, rarely, CLCF1. PERCHING syndrome, previously known as CS/CISS type-3 associated with biallelic pathogenic variants in KLHL7, is notable for its few overlapping manifestations. Read More

Actas Dermosifiliogr 2022 05 20;113(5):514-515. Epub 2021 Sep 20.

Servicio de Dermatología, Hospital Universitario San Cecilio, Granada, España. Electronic address:

J Eur Acad Dermatol Venereol 2022 Jun 11. Epub 2022 Jun 11.

Department of Dermatology, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Eur J Hum Genet 2022 Jun 9. Epub 2022 Jun 9.

Department of Molecular Biology and Genetics, MOBGAM, Istanbul Technical University, Istanbul, Turkey.

We present the first pachyonychia congenita (PC) to involve all ectodermal derivatives and the first recessive KRT17-related PC in total seven members of two consanguineous Pakistani families. This atypical PC is characterized by an unusual combination of pachyonychia, plantar keratoderma, folliculitis, alopecia, sparse eyebrows, dental anomalies and variable acanthosis nigricans of neck, dry skin, palmoplantar hyperhidrosis, recurrent blisters on soles and/or arms, rough sparse hair on scalp and keratosis pilaris. By exome sequencing we detected homozygous KRT17 c. Read More

Int J Biol Macromol 2022 Jul 25;212:442-450. Epub 2022 May 25.

Institute of Applied Mechanics, National Taiwan University, Taipei City, Taiwan. Electronic address:

Human epithelial keratin is an intermediate filament protein that serves as a backbone to maintain the stability of the cell nucleus and mechanical stability of the whole cells. The present study focused on two point mutations, F231L and S233L, of the 1B domain of keratin K 1/10 related to the rare genetic skin disease palmoplantar keratoderma (PPK). We used molecular dynamics simulation to study the effects of the mutations on various hierarchical structures, including heterodimers, tetramers, and octamers of the K1/10 1B domain at the atomic scale. Read More

Clin Exp Dermatol 2022 May 16. Epub 2022 May 16.

Services of Dermatology and Venereology, Centre Hospitalier Universitaire (CHU) de Reims, Reims, France.

A new de novo heterozygous mutation in the desmoplakin gene, causing Naxos and Carvajal disease, has been reported in a 13-year-old Caucasian girl, with expanded clinical phenotype. In addition to woolly hair, palmoplantar keratoderma and cardiomyopathy, she had oligodontia and nail fragility. These additional clinical features may help in the diagnosis of Naxos and Carvajal disease, known to be severe on the cardiac level. Read More

Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2022 Apr;44(2):227-235

Department of Dermatology,State Key Laboratory of Complex Severe and Rare Diseases,PUMC Hospital,CAMS and PUMC, National Clinical Research Center for Dermatologic and Immunologic Diseases,Beijing 100730,China.

Objective To investigate the clinical characteristics and genetic mutations in Kindler syndrome(KS)and provide a theoretical basis for the diagnosis and treatment of KS. Methods The clinical data of one case of KS from Peking Union Medical College Hospital and 185 cases reported in literature were collected. The gene mutation types,patient clinical data,and tumor characteristics were statistically analyzed. Read More

Neurol India 2022 Mar-Apr;70(2):818-819

Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.

Photodiagnosis Photodyn Ther 2022 Apr 29;39:102891. Epub 2022 Apr 29.

Institute of Photomedicine, Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai 200092, PR China. Electronic address:

The follicular occlusion tetrad is a complex dermatologic syndrome which can concomitant with other diseases. The case reported a young male patient suffer from follicular occlusion tetrad (acne conglobata, hidradenitis suppurativa, dissecting cellulitis of the scalp, and pilonidal sinuses) concomitant with pachyonychia congenital type Ⅱ (thickened nails, palmoplantar keratoderma, multiple cysts) and ankylosing spondylitis (lumbago, human leukocyte antigen-B27 positive). The genetic analysis showed the KRT17 gene mutation on exon 1 (c. Read More

J Eur Acad Dermatol Venereol 2022 May 1. Epub 2022 May 1.

Dermatology Hospital, Southern Medical University, Guangzhou, China.

Background: Epidermolytic palmoplantar keratoderma (EPPK) is characterized by diffuse hyperkeratosis affecting palms and soles with suprabasal epidermolysis or vacuolar degeneration histopathologically. The disorder is caused by heterozygous mutations in KRT9 or KRT1. Dominant-negative mutations in KRT1 could also result in epidermolytic ichthyosis with EPPK, a more severe entity affecting the entire body. Read More

J Dermatol 2022 Apr 25. Epub 2022 Apr 25.

Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.

Palmoplantar keratodermas (PPK) comprise a heterogeneous group of keratinization disorders that gradually progress during childhood, resulting in difficulties to establish a diagnosis and to identify a candidate gene for sequencing. Dermoscopic examination with staining of palmoplantar skin using a whiteboard marker, so-called "furrow ink test", could be a useful tool for differentiation between furrow and ridge in understanding the morphological characteristics of PPK. One of the striking features in autosomal dominant loricrin keratoderma (LK) is diffuse PPK with honeycomb pattern. Read More

Biomedicines 2022 Apr 3;10(4). Epub 2022 Apr 3.

IMAGINE Institute, Inserm U1163, Université de Paris, 75015 Paris, France.

Pachyonychia congenita (PC) is a genodermatosis associated with severe painful palmoplantar keratoderma (PPK) and thickened dystrophic nails caused by autosomal dominant-negative mutations in five genes encoding keratins 6A-B-C, 16, and 17. The mechanical, surgical, or medical options for painful PC are inefficient. Given ErbB/Her family members' role in epidermal homeostasis, this study sought to investigate the possibility of treating PC patients with PPK by blocking signaling either with EGFR (Her1) inhibitor erlotinib or lapatinib, a dual EGFR(Her1)/Her2. Read More

J Eur Acad Dermatol Venereol 2022 Apr 21. Epub 2022 Apr 21.

Department of Dermatology and Allergology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Background: PPKs represent a heterogeneous group of disorders with hyperkeratosis of palmar and/or plantar skin. PPK, hair shaft abnormalities, cardiomyopathy and arrhythmias can be caused by mutations in desmosomal genes, e.g. Read More

Australas J Dermatol 2022 May 16;63(2):e145-e149. Epub 2022 Apr 16.

Pt BD Sharma Postgraduate Institute of Medical Sciences, Rohtak, India.

A 25-year-old male patient presented with palmoplantar keratoderma, dystrophic nails, severe plantar pain and oral leukokeratosis since birth. On genetic analysis, a heterozygous KRT6A gene missense mutation (c.1381G > A, p. Read More

J Invest Dermatol 2022 Apr 9. Epub 2022 Apr 9.

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; Department of Dermatology, Xiamen Chang Gung Hospital, Xiamen 361026, China; Dermatology Hospital, Southern Medical University, Guangzhou 510091, China. Electronic address:

Palmoplantar keratoderma-congenital alopecia syndrome type 2 (PPKCA2) is an autosomal recessive disorder with unknown genetic basis. Herein, we identified biallelic variants in the LSS gene in two unrelated PPKCA2 cases (c.3G>A, p. Read More

J Eur Acad Dermatol Venereol 2022 Apr 10. Epub 2022 Apr 10.

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

Clin Exp Dermatol 2022 Apr 9. Epub 2022 Apr 9.

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

Ichthyosis follicularis (IF) manifests as generalized spiny follicular projections found in syndromic diseases secondary to SREBF1 and MBTPS2 mutations. We sought the genetic cause of IF in two distinct families from a cohort of 180 patients with ichthyosis. In Family 1, the proband (Patient 1) presented with IF, bilateral sensorineural hearing loss and punctate palmoplantar keratoderma. Read More

Photodermatol Photoimmunol Photomed 2022 Apr 1. Epub 2022 Apr 1.

Department of Health Sciences, University of Magna Graecia, Catanzaro, Italy.

Front Med (Lausanne) 2022 10;9:821301. Epub 2022 Mar 10.

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

Background: Mal de Meleda (MDM, OMIM 248300) is an autosomal recessive disease characterized by symmetrical and progressive palmoplantar hyperkeratosis soon after birth. Mutations in gene could lead to MDM. Clinically, MDM is easily misdiagnosed as other types of keratoderma due to phenotypic variation and overlap. Read More

Int J Environ Res Public Health 2022 03 13;19(6). Epub 2022 Mar 13.

Department of Paediatric Dentistry, Medical University of Warsaw, Binieckiego 6 Street, 02-097 Warsaw, Poland.

Background: Premature loss of primary teeth can occur as a consequence of dental trauma, neonatal tooth extraction, early childhood caries, or periodontal problems, or it can be a manifestation of systemic disease. This review aims to present systemic disorders that can lead to premature loss of deciduous teeth in children and to provide a comprehensive resource for clinical practice for both physicians and dentists.

Methods: This study is a narrative review of original studies and case reports published in English and Polish between 1957 and 2021 that was conducted by searching electronic scientific resources: PubMed, Google Scholar, Web of Science, and Science Direct. Read More

Exp Dermatol 2022 Jun 1;31(6):970-979. Epub 2022 Apr 1.

Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Desmoplakin (DP) is an important component of desmosomes, essential in cell-cell connecting structures in stress-bearing tissues. Over the years, many hundreds of pathogenic variants in DSP have been associated with different cutaneous and cardiac phenotypes or a combination, known as a cardiocutaneous syndrome. Of less than 5% of the reported DSP variants, the effect on the protein has been investigated. Read More

Australas J Dermatol 2022 05 21;63(2):e181-e182. Epub 2022 Mar 21.

Department of Dermatology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.

Clin Case Rep 2022 Mar 13;10(3):e05577. Epub 2022 Mar 13.

Dermatology Department - Rabta hospital Tunis Tunisia.

Rapp-Hodgkin syndrome (RHS) is a rare condition that is characterized by ectodermal dysplasia and palatal abnormalities. Palmoplantar keratoderma (PPK) is an unusual manifestation of hidrotic ED. Ulcerations on the palms are also not common in RHS. Read More

J Am Soc Nephrol 2022 05 15;33(5):936-947. Epub 2022 Mar 15.

Experimental and Clinical Research Center, Max Delbrueck Center for Molecular Medicine and Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Berlin, Germany

Background: The ANCA autoantigens proteinase 3 (PR3) and myeloperoxidase (MPO) are exclusively expressed by neutrophils and monocytes. ANCA-mediated activation of these cells is the key driver of the vascular injury process in ANCA-associated vasculitis (AAV), and neutrophil serine proteases (NSPs) are disease mediators. Cathepsin C (CatC) from zymogens activates the proteolytic function of NSPs, including PR3. Read More

Indian J Dermatol 2021 Nov-Dec;66(6):693-695

Department of DVL, IMS and SUM Hospital, Bhubaneswar, Odisha E-mail:

JAAD Case Rep 2022 Apr 5;22:27-30. Epub 2022 Feb 5.

Department of Dermatology, University of Pennsylvania, Philadelphia, Pennsylvania.

Pediatr Dermatol 2022 Mar 1. Epub 2022 Mar 1.

As'ad Al-Hamad Dermatology Center, Kuwait.

CEDNIK syndrome is a rare autosomal recessive syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma of which 25 cases from 19 families have been reported to date. It is a progressive neurodegenerative disorder caused by the loss-of-function pathogenic variant of the SNAP29 gene encoding a member of the SNARE family of proteins. We describe two female siblings from a Syrian parent-related family with CEDNIK syndrome due to homozygous pathogenic variant in SNAP29 [c. Read More

J Eur Acad Dermatol Venereol 2022 07 8;36(7):e559-e561. Epub 2022 Mar 8.

Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital, Bonn, Germany.