Search Our Scientific Publications & Authors

Mol Genet Genomic Med 2022 04 11;10(4):e1889. Epub 2022 Feb 11.

Department of Dermatology, Peking University People's Hospital, Beijing, China.

Background: Monilethrix is a rare hereditary hair loss disorder characterized by hair fragility and beaded hair shaft alterations. Monilethrix is classically inherited in an autosomal dominant (AD) fashion caused by variants in the hair keratin genes KRT81, KRT83, or KRT86. Interestingly, an autosomal recessive (AR) form of monilethrix with variants in DSG4 gene has also been reported in recent years. Read More

J Dermatol 2022 Jan 21;49(1):55-67. Epub 2021 Oct 21.

Department of Dermatology, Yamaguchi University Graduate School of Medicine, Ube, Japan.

Genetic hair disorders, although unusual, are not very rare, and dermatologists often have opportunities to see patients. Significant advances in molecular genetics have led to identifying many causative genes for genetic hair disorders, including the recently identified causative genes, such as LSS and C3ORF52. Many patients have been detected with autosomal recessive woolly hair/hypotrichosis in the Japanese population caused by founder mutations in the LIPH gene. Read More

Clin Exp Dermatol 2022 Feb 23;47(2):461-463. Epub 2021 Nov 23.

Department of Dermatology, West China Hospital of Sichuan University, Chengdu, China.

An Bras Dermatol 2021 Sep-Oct;96(5):569-573. Epub 2021 Jul 14.

Division of Dermatology, Department of Internal Medicine, Faculty of Medicine, Universidade de São Paulo, Ribeirão Preto, SP, Brazil.

Monilethrix is a rare defect of the hair shaft, with most cases showing an autosomal dominant pattern of inheritance and variable clinical expression. It is characterized by hypotrichosis secondary to hair fragility. The diagnosis is made through trichoscopy, detecting typical findings such as periodic narrowing at regular intervals, giving the hair the appearance of beads in a rosary. Read More

J Eur Acad Dermatol Venereol 2021 Jul 23;35(7):1485-1492. Epub 2021 Mar 23.

Dermatology Unit, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.

Topical minoxidil has been used for many years as treatment for different hair disorders. Even though it is an effective therapy, many patients show poor compliance due to the cosmesis, cost and side-effects. During the last few years, low-dose oral minoxidil has proven to be an alternative for patients with alopecia. Read More

Int J Trichology 2020 Sep-Oct;12(5):238-240. Epub 2020 Nov 3.

Department of Dermatology, Pramukhswami Medical College, Shree Krishna Hospital, Karamsad, Gujarat, India.

Dermatol Pract Concept 2021 Jan 7;11(1):e2020080. Epub 2020 Dec 7.

Pediatric Dermatology, Cloudnine Hospital, Bengaluru, India.

J Struct Biol 2021 03 10;213(1):107679. Epub 2020 Dec 10.

KAO European Research Laboratories, KAO Germany GmbH, D-64297 Darmstadt, Germany. Electronic address:

Utilising the AFM nanoindentation technique for the study of hair cross- and longitudinal sections, the mechanical anisotropy of human hair fibres affected by a rare congenital condition, Monilethrix, has been investigated for the first time. Supported by X-ray microdiffraction data, and applying a model based on an ideal composite material consisting of rods (KIFs) and matrix (KAPs) to Monilethrix affected fibres, it has been shown that the results could be grouped into clearly different classes, namely: almost isotropic behaviour for Monilethrix affected hairs and anisotropic behaviour for Control hair. Moreover, AFM nanoindentation of hair cross sections has demonstrated, also for the first time that hairs affected by Monilethrix have a continuous, and not periodic, weakness within the cortex. Read More

J Am Acad Dermatol 2021 Mar 2;84(3):737-746. Epub 2020 Jul 2.

Dr Phillip Frost Department of Dermatology and Cutaneous Surgery, University of Miami School of Medicine, Miami, Florida. Electronic address:

Background: Although topical minoxidil is an effective treatment option for hair loss, many patients are poorly compliant because of the necessity to apply the medication twice a day, undesirable hair texture, and scalp irritation.

Objective: In recent years, oral minoxidil at low dose has been proposed as a safe alternative. This study reviewed articles in which oral minoxidil was used to treat hair loss to determine its efficacy and safety as an alternative to topical minoxidil. Read More

Int J Dermatol 2020 Aug 9;59(8):1013-1019. Epub 2020 Jun 9.

Department of Dermatology, University of California, Irvine, Irvine, CA, USA.

Background: Topical minoxidil has been used for almost 40 years to treat alopecia. There is growing evidence supporting off-label use of low-dose oral minoxidil.

Objective: To conduct a systematic review evaluating the use of oral minoxidil for all types of alopecia. Read More

J Pediatr 2020 09 21;224:175. Epub 2020 May 21.

Dermatology Department, Hospital Regional Universitario de Málaga, Málaga, Spain.

Indian Dermatol Online J 2020 Jan-Feb;11(1):65-67. Epub 2020 Jan 13.

Department of Dermatology and STD, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India.

Monilethrix is a rare hereditary disorder affecting hair resulting in hair fragility and alopecia. We report three patients of monilethrix who presented with complaints of sparse and brittle hair from early childhood. All three patients had multiple discrete hyperkeratotic papules over the scalp. Read More

Skin Appendage Disord 2019 Feb 27;5(2):127-129. Epub 2018 Jul 27.

Dermatology Department, Habib Thameur Hospital, Tunis, Tunisia.

Am J Clin Dermatol 2019 Apr;20(2):237-250

Department of Dermatology, Northwestern University, 676 N St Clair St, Suite 1600, Chicago, IL, 60611, USA.

Topical minoxidil is a well-known and often-utilized drug in dermatological practice for the treatment of alopecia. It was approved by the United States Food and Drug Administration for the treatment of androgenetic alopecia in 1988. Since its approval, minoxidil has been used off-label for the treatment of many other types of alopecia, with minimal formal evidence of efficacy. Read More

Int J Trichology 2018 Jul-Aug;10(4):154-161

Department of Medicine, Faculty of Medicine, Mutah University, Mutah, Karak, Jordan.

Introduction: Hair loss is a common and distressing clinical complaint in the dermatology clinics. Common causes of hair loss in children include alopecia areata, tinea capitis, traction alopecia, and trichotillomania. Newly, trichoscopy allows differential diagnosis of hair loss in most cases and allows visualization of hair shafts and scalps without the need of removing hair. Read More

Dermatol Clin 2018 Oct 16;36(4):421-430. Epub 2018 Aug 16.

Department of Dermatology, Medical University of Warsaw, Pawinskiego 5, 02-106, Warszawa, Poland.

Trichoscopy allows analyzing the structure and size of growing hair shafts in their natural environment in children and adults. The method replaces light microscopy, which requires pulling of multiple hairs for investigation. In monilethrix, trichoscopy shows uniform elliptical nodosities with intermittent constrictions. Read More

CMAJ 2018 07;190(30):E912

Department of Dermatology, Affiliated Third Hospital of Hangzhou, Anhui Medical University, Hefei, Anhui province, China

Indian Dermatol Online J 2018 Jul-Aug;9(4):269-270

Department of Dermatology and Venereology, Pramukhswami Medical College, Karamsad, Gujarat, India.

J Dermatol 2018 Nov 27;45(11):e298-e300. Epub 2018 Apr 27.

Department of Dermatology, The West China Hospital, Sichuan University, Chengdu, China.

Dermatol Online J 2017 Jul 15;23(7). Epub 2017 Jul 15.

Department of Dermatology, Hôpital Nord, University of Amiens, 80000 - Amiens, France.

Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia responsible for hypotrichosis. We report the case of a child with monilethrix with no associated cases in the family. Trichoscopy facilitated the diagnosis. Read More

Australas J Dermatol 2018 Nov 5;59(4):e276-e277. Epub 2018 Feb 5.

Alopecia and Hair Disorders Section, Dermato-Oncology Clinic, Faculty of Medicine, Autonomous National University of Mexico, Mexico City, Mexico.

JAMA Pediatr 2018 Feb;172(2):193-194

Department of Pediatrics, University of Mississippi Medical Center, Jackson.

Br J Dermatol 2017 10;177(4):e163

Department of Dermatology, Universidade de Sao Paulo Faculdade de Medicina, Av. Dr Enéas de Carvalho Aguiar, 255, 3° andar, São Paulo, 05403-900, Brazil.

Ugeskr Laeger 2017 Sep;179(37)

Monilethrix is a rare genodermatosis with high penetrance and variable expressivity. This is a case report of a Danish family with varying phenotypical presentations. The family members were diagnosed using dermatoscopy and microscopy, which were subsequently supported by gene sequence analysis. Read More

Int J Trichology 2017 Apr-Jun;9(2):90-91

Faculty of Mathematics and Natural Sciences, Institute of Biology and Environmental Protection, Pomeranian Academy, 76-200 Slupsk, Poland.

J Eur Acad Dermatol Venereol 2017 Sep 1;31(9):e409-e410. Epub 2017 Jun 1.

Department of Dermatology, Allergology and Venerology, Medical University of Gdansk, Gdansk, Poland.

J Med Genet 2017 03 13;54(3):186-189. Epub 2016 Dec 13.

Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado, USA.

Background: Progressive symmetric erythrokeratoderma (PSEK) is a rare skin disorder characterised by symmetrically distributed demarcated hyperkeratotic plaques, often with associated palmoplantar hyperkeratosis, with new plaques appearing over time. Most cases are inherited in an autosomal dominant manner, although a few cases exhibit apparent autosomal recessive inheritance.

Objective: To identify the gene underlying autosomal recessive PSEK in a large Pakistani kindred. Read More

Pediatr Rev 2016 Sep;37(9):e38-40

Departments of Dermatology and Pediatrics, University of California, San Diego and Rady Children's Hospital, San Diego, CA.

J Dermatol Sci 2016 Dec 7;84(3):232-238. Epub 2016 Aug 7.

Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Chuo-ku, Niigata 951-8510, Japan. Electronic address:

Recent advances in molecular genetics have led to the identification of many genes expressed in hair follicle (HF), while the precise roles of these genes in the HF have not completely been disclosed. Using the methods of forward genetics, we and others have recently identified a series of genes responsible for hereditary hair disorders in humans, including monilethrix, woolly hair, and various ectodermal dysplasia syndromes. Furthermore, expression and functional analyzes have gradually revealed that these genes are directly or indirectly related with each other. Read More