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A rare case of hypotrichosis with juvenile macular dystrophy (HJMD) was identified in a six-year-old Saudi girl with sparse scalp hair and progressive vision loss. Born to consanguineous parents, she exhibited symptoms from birth, including decreased night vision and cone-rod dysfunction. Genetic analysis revealed a homozygous missense mutation, c.1918T>G (p.Cys640Gly), in the CDH3 gene. This finding contributes to the understanding of the genetic spectrum of HJMD in Saudi Arabia, highlighting the importance of genetic evaluation in patients with similar clinical features.

research 0749 Serine and arginine-rich splicing factor 3 regulates epidermal differentiation in cutaneous squamous cell carcinoma

July 2025 in “Journal of Investigative Dermatology”

research Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome

1 citations , September 2019 in “Steroids”

Two new mutations in the AR gene linked to severe androgen insensitivity were found.

research Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fz^ica) mice points to fuzzy as a key element of hair cycle control

20 citations , July 2005 in “Experimental dermatology”

The fuzzy gene is crucial for controlling hair growth cycles.

Identification of a Cyclosporine-Specific P450 Hydroxylase Gene Through Targeted Cytochrome P450 Complement Disruption in Sebekia Benihana

research Identification of a Cyclosporine-Specific P450 Hydroxylase Gene through Targeted Cytochrome P450 Complement (CYPome) Disruption in Sebekia benihana

13 citations , January 2013 in “Applied and Environmental Microbiology”

A gene in Sebekia benihana, CYP-sb21, is needed for a specific reaction on the drug Cyclosporine A, which could be important for hair growth without affecting the immune system.

research The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites

6 citations , March 1996 in “Journal of Investigative Dermatology”

research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair

7 citations , February 2011 in “Journal of dermatology”

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.

research 1329 Transglutaminase 2 deficiency leads to lipid accumulation and reduced autophagy in SZ95 sebocytes

April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology”

Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.

research Skin Stearoyl-CoA Desaturase Genes

1 citations , January 2013

research Multiple iridociliary cysts in patients with mucopolysaccharidoses

21 citations , August 2002 in “British Journal of Ophthalmology”

research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene

20 citations , October 2005 in “Archives of Dermatological Research”

research Decision letter: Arabidopsis formin 2 regulates cell-to-cell trafficking by capping and stabilizing actin filaments at plasmodesmata

April 2018

Arabidopsis Formin 2 stabilizes actin filaments to aid cell-to-cell trafficking.

research OsPHR2 Is Involved in Phosphate-Starvation Signaling and Excessive Phosphate Accumulation in Shoots of Plants

546 citations , February 2008 in “PLANT PHYSIOLOGY”

OsPHR2 gene causes excessive phosphate in rice shoots, affecting plant growth and root development.

research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family

1 citations , September 2021 in “Frontiers in genetics”

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles

August 2022 in “Frontiers in genetics”

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome

research A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome

December 2023 in “American journal of medical genetics. Part A”

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

81 citations , March 2006 in “Journal of Investigative Dermatology”

Mutations in the DSG4 gene cause specific hair and scalp issues.

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research sPLA2-IIA Overexpression in Mice Epidermis Depletes Hair Follicle Stem Cells and Induces Differentiation Mediated Through Enhanced JNK/c-Jun Activation

research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review

research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis

research Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case

research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report

research Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix

research Structure and hair follicle-specific expression of genes encoding the rat high sulfur protein B2 family

research A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis

research SIRT 7 activates quiescent hair follicle stem cells to ensure hair growth in mice

research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy