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Skin Res Technol 2022 Jun 21. Epub 2022 Jun 21.

Department of Dermatology, Tianjin Children's Hospital, Tianjin, China.

Background: Molluscum contagiosum (MC), milia, keratosis pilaris (KP), verruca plana (VP), seborrheic keratosis (SK), and juvenile xanthogranuloma (JXG) are common papule dermatoses on the face of children that have a similar appearance. In vivo evaluation of facial papule dermatoses with reflectance confocal microscopy (RCM) is helpful in the diagnosis of these ambiguous lesions in children. The purpose of this study was to clarify the RCM characteristics of MC, milia, KP, VP, SK, and JXG and explore the clinical application value of RCM for these common facial papule dermatoses. Read More

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

Genes (Basel) 2022 May 4;13(5). Epub 2022 May 4.

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

Multiple intestinal atresia with combined immune deficiency (MIA-CID) is an autosomal recessive syndrome due to mutations in the TTC7A gene implicated in the polarization of intestinal and thymic epithelial cells. MIA-CID is lethal in the first year of life in the majority of patients. Dermatological manifestations have been reported in a few cases. Read More

J Dermatol 2022 May 26. Epub 2022 May 26.

Helsinki University Hospital, Skin and Allergy Hospital, Helsinki, Finland.

Keratosis pilaris (KP) associates with epidermal barrier defects in atopic dermatitis (AD) but its role in disease severity and concomitant atopic diseases seems to vary between populations. We performed a cross-sectional observational study with 502 randomly selected AD patients of a Finnish tertiary health care center. At a single clinical examination, disease severity (Rajka Langeland severity score and EASI), clinical signs and patient history were evaluated and total IgE levels and frequent filaggrin (FLG) loss-of-function mutations were investigated. Read More

J Cosmet Dermatol 2022 May 15. Epub 2022 May 15.

Department of Dermatology, Necmettin Erbakan University Meram Medical Faculty, Konya, Turkey.

Objective: Keratosis pilaris rubra (KPR) is a rare group of idiopathic hereditary disorders of keratinization, and it is considered as variants of keratosis pilaris. It is characterized by a well-defined erythema and small, keratotic follicular papules that are seen on the cheeks and preauricular area. Keratosis pilaris rubra is an aesthetically distressed situation, and especially vascular erythema is the most common complaint. Read More

Skinmed 2022 30;20(2):139-140. Epub 2022 Apr 30.

Department of Dermatology, Temple University Lewis Katz School of Medicine, Philadelphia, PA.

Ann Dermatol Venereol 2022 May 5. Epub 2022 May 5.

Department of Dermatology, Montpellier University Hospital Center, 34295 Montpellier, France.

Background: Tuberous sclerosis complex (TSC) is a genetic disorder involving the TSC1 or TSC2 gene. Skin signs are prominent, but dermatological data are scarce. This study aims to describe the cutaneous signs of TSC with the genotype. Read More

Clin Exp Dermatol 2022 Apr 29. Epub 2022 Apr 29.

Department of Dermatology, Cleveland Clinic Foundation, Cleveland, OH, USA.

We describe a patient with the keratosis pilaris atrophicans variant of cicatricial alopecia in conjunction with cardiofaciocutaneous syndrome. Read More

Pediatr Dermatol 2022 Mar 14. Epub 2022 Mar 14.

Department of Dermatology, Aydın Adnan Menderes University Faculty of Medicine, Aydın, Turkey.

Background: Cutaneous changes in obese adults have been investigated in numerous studies, but this issue has not been adequately investigated in children.

Objectives: We aimed to determine the prevalence of skin manifestations in children with obesity by comparing them to normal-weight children.

Methods: A cross-sectional study was conducted between June 2017 and January 2019 in which 82 children with obesity and 86 normal-weight healthy control children were enrolled. Read More

Pediatr Dermatol 2022 Mar 1. Epub 2022 Mar 1.

Department of Dermatology, University of Minnesota, Minneapolis, Minnesota, USA.

Keratosis pilaris rubra (KPR) is a subtype of keratosis pilaris (KP) presenting with numerous "grainlike" follicular papules in a background of confluent erythema most often affecting the face and upper extremities with persistence beyond puberty. Treatment has remained challenging with inconsistent benefit from topical therapies such as emollients, keratolytics, corticosteroids, and retinoids, though case reports documenting success with pulsed dye laser therapy have been found. We present a case of KPR in a 15-year-old boy who was successfully treated with topical sirolimus 1% cream. Read More

Pediatr Dermatol 2022 Mar 17;39(2):231-235. Epub 2022 Feb 17.

Department of Medicine, University of Chicago, Chicago, Illinois, USA.

Background/objectives: Follicular keratosis (FK) is a poorly understood disorder presenting with multiple, grouped hyperkeratotic follicular papules typically affecting the chin or jawline. This study describes the clinical presentation, histopathology, management, and outcomes of a series of pediatric patients of color with FK of the face, thought to be related to rubbing or friction on the skin.

Methods: Retrospective review of 20 pediatric patients with FK of the face who presented to our pediatric dermatology practice between April 2019 and October 2021. Read More

Pediatr Blood Cancer 2022 Aug 15;69(8):e29509. Epub 2022 Jan 15.

Department of Pediatrics, Valley Children's Healthcare, Madera, California, USA.

Mymensingh Med J 2022 Jan;31(1):263-266

Dr Ershad Mondal, Medical Officer, Department of Medicine, Mymensingh Medical College Hospital (MMCH), Mymensingh, Bangladesh; E-mail:

Noonan syndrome is a genetic disorder of autosomal dominant inheritance that prevents normal development in various parts of the body. A spontaneous mutation without any family history may also result in the condition. Noonan syndrome can affect normal growth. Read More

Pediatr Dermatol 2022 Jan 5;39(1):133-134. Epub 2022 Jan 5.

Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, South Carolina, USA.

Keratosis pilaris is a common skin condition associated with a number of syndromes, including collagen type VI-related disorders. Our patient, recently diagnosed with Ullrich congenital muscular dystrophy, presented with severe keratosis pilaris, hypotonia, and velvety skin on the palms and soles. We present this case to highlight the importance of including cutaneous findings, such as keratosis pilaris, to aid in the diagnosis when evaluating patients with syndromic features. Read More

Acta Derm Venereol 2022 Mar 8;102:adv00664. Epub 2022 Mar 8.

Department of Dermatology, Venereology and Allergology, University Hospital Schleswig-Holstein, Campus Kiel, Arnold-Heller Str. 3, DE-24105 Kiel, Germany.

Nummular (coin-shaped) and classical (flexural) atopic dermatitis differ morphologically, but no other distinguishing features are known. The aim of this study was to determine differences and similarities of both variants in children. Detailed interviews, clinical examinations, biophysical measurements and electron microscopic analyses were performed on 10 children with nummular atopic dermatitis, 14 with classical atopic dermatitis and 10 healthy controls. Read More

Pediatr Dermatol 2022 Mar 9;39(2):309-311. Epub 2021 Dec 9.

Department of Dermatology, University of California, San Diego, California, USA.

Bethlem myopathy is a collagen VI-related myopathy. Collagen VI is primarily not only associated with the extracellular matrix of skeletal muscle, but is also found in the skin, blood vessels, and other organs. Dermatologic findings described for Bethlem myopathy include follicular hyperkeratosis and abnormal scar formation, although clinical and histopathologic photographs remain elusive in the literature. Read More

Arch Argent Pediatr 2021 12;119(6):e636-e638

Servicio de Dermatología del Complejo Hospitalario Universitario de Pontevedra, Pontevedra, España.

Ulerythema ophryogenes is a benign and rare skin disorder commonly presenting in childhood. It is characterized by erythematous and keratotic follicular papules located on the side of the eyebrows, and which over time tends to evolve into scarred alopecia. This entity may appear as an isolated clinical manifestation or associated with several congenital syndromes (18p-, Cornelia de Lange, Noonan, Rubinstein- Taybi, among others). Read More

Clin Exp Dermatol 2022 Mar 16;47(3):619-621. Epub 2021 Dec 16.

Department of Dermatology, University of Illinois College of Medicine, Chicago, IL, USA.

Although a well-known recommended treatment option, there are currently no studies that describe the detailed regimen of isotretinoin for the treatment of primary keratosis pilaris. Based on previous studies involving other hyperkeratotic disorders, this report describes a safe and effective treatment course of isotretinoin for severe keratosis pilaris. Read More

Cureus 2021 Oct 20;13(10):e18917. Epub 2021 Oct 20.

Psychiatry, Mercy General Hospital, Sacramento, USA.

Keratosis pilaris is a common and benign genetic skin disorder that results in patches of rough bumps on the skin, with varying degrees of reddening and inflammation. These bumps in the skin are caused by the dead skin cells that plug the hair follicles. Keratosis pilaris often manifests in small, hard bumps on the legs and arms. Read More

Exp Ther Med 2021 Nov 20;22(5):1331. Epub 2021 Sep 20.

Department of Dermatology, Dermatology Clinic, Faculty of Medicine and Pharmacy, University of Oradea, 410073 Oradea, Romania.

Keratosis pilaris atrophicans faciei (KPAF) is a hereditary follicular disorder, an atrophicans subtype of keratosis pilaris (KP) with a highly elusive diagnosis. Clinically, it presents with follicular, horny papules surrounded by an erythematous halo of the cheeks, forehead, chin and eyebrows, and it is followed by a gradual hair loss on the lateral margins of the eyebrows. The onset is as early as a few months after birth, but it is mainly diagnosed in children and adolescents and it can persist through adulthood. Read More

Clin Exp Allergy 2021 11 18;51(11):1421-1428. Epub 2021 Oct 18.

Centre for Genomic and Experimental Medicine, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.

Background: Palmar hyperlinearity is a feature of ichthyosis vulgaris, the monogenic skin disorder caused by FLG loss-of-function mutations.

Objective: To investigate how well the presence or absence of hyperlinear palms (HLP) detect FLG genotype in children.

Methods: STARD criteria are used to report this diagnostic accuracy study. Read More

Rev Assoc Med Bras (1992) 2021 03;67(3):353-354

Universidade Federal da Bahia, Complexo Hospitalar Universitário Professor Edgard Santos, Departamento de Dermatologia - Salvador (BA) Brazil.

Indian J Pharmacol 2021 Jul-Aug;53(4):330-331

Department of Dermato-Venereo-Leprology, Government Medical College and Hospital, Nagpur, Maharashtra, India.

World J Clin Cases 2021 Jun;9(18):4681-4689

Department of Dermatology, Air Force Characteristic Medical Center, Beijing 100142, China.

Background: Keratosis pilaris is a hereditary abnormal keratosis of the hair follicle orifice. Gray-brown keratotic plugs in the pores and dark red keratotic papules at the openings of hair follicles can be seen, which contain coiled hair and are often accompanied by perifollicular erythema and pigmentation. Glycolic acid can correct the abnormalities of hair follicular duct keratosis and eliminate excessive accumulation of keratinocytes. Read More

Dermatol Surg 2021 07;47(7):1024-1025

Sinclair Dermatology, Melbourne, Victoria, Australia.

Pediatr Blood Cancer 2021 09 9;68(9):e29140. Epub 2021 Jun 9.

French Reference Center for Langerhans Cell Histiocytosis, Trousseau Hospital, Paris, France.

Background: The somatic BRAF mutation occurs in 38-64% of pediatric cases of Langerhans cell histiocytosis (LCH). Vemurafenib (VMF), a BRAF inhibitor, was approved for refractory BRAF mutated LCH. In adults, VMF causes frequent cutaneous adverse events (CAE) including skin tumors (squamous cell carcinomas, melanomas), but little is known in children. Read More

J Dtsch Dermatol Ges 2021 Jul 20;19(7):1052-1056. Epub 2021 May 20.

Klinik für Dermatologie, Venerologie und Allergologie, Universitätsklinikum Leipzig, Leipzig, Deutschland.

Am J Hum Genet 2021 06 11;108(6):1151-1160. Epub 2021 May 11.

de Duve Institute, UCLouvain, 1200 Brussels, Belgium. Electronic address:

We describe a genetic syndrome due to PGM2L1 deficiency. PGM2 and PGM2L1 make hexose-bisphosphates, like glucose-1,6-bisphosphate, which are indispensable cofactors for sugar phosphomutases. These enzymes form the hexose-1-phosphates crucial for NDP-sugars synthesis and ensuing glycosylation reactions. Read More

Cutis 2021 Feb;107(2):74-78

Mr. Svoboda is from the Virginia Tech Carilion School of Medicine, Roanoke. Dr. Shields is from the Department of Dermatology, University of Wisconsin School of Medicine and Public Health, Madison.

Hyperglycemia is defined by excess blood glucose and, when persistent, may lead to prediabetic and diabetic states. Insulin is a hormone produced by the beta cells of the pancreas in response to elevated blood glucose. Dysregulated insulin secretion or clearance results in hyperinsulinemia, which also is closely associated with type 2 diabetes mellitus (T2DM) and metabolic disturbances. Read More

Dermatol Pract Concept 2021 Mar 8;11(2):e2021019. Epub 2021 Mar 8.

Department of Dermatology, Kasturba Medical College, MAHE, Manipal, India.