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This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.

This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.

Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.

This study found that a gluconolactone-based shampoo and lotion significantly reduced skin scaling in golden retrievers with autosomal recessive congenital ichthyosis.

This case report presents a 28-year-old woman with alopecia universalis and macular dystrophy, highlighting a potential new linkage between these conditions without previously identified associated genes.

This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.

This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.

This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.

This case report describes a new family with autosomal recessive hypotrichosis simplex with woolly hair, suggesting the disorder may be underreported due to misdiagnosis.

This case study suggests that obstructive sleep apnea syndrome may be hereditary in patients with connective tissue disorders due to a variant in the COL1A2 gene.

This review details the global mutation patterns of genes associated with autosomal recessive woolly hair/hypotrichosis and highlights potential, yet unproven, treatments like minoxidil and regenerative therapies, reporting no new clinical results.

This case series describes eight instances of autosomal recessive woolly hair in an Indian population over the past 12 years, detailing their clinical presentation, hair traits, and treatment response.

LIPH mutations cause woolly hair in some Chinese people.

In this case report, researchers detailed a 22-year-old Turkish woman diagnosed with autosomal recessive woolly hair/hypotrichosis (ARWH/H), linked to a mutation in the LIPH gene, resulting in sparse, poorly growing, curly hair, highlighting the need for genetic consideration in similar hair conditions.

This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.

In this case study from King Fahad University Hospital, an 11-month-old Saudi boy with a history of short, non-growing hair was diagnosed with autosomal recessive woolly hair/hypotrichosis, attributed to a homozygous mutation in the LIPH gene.

This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.

In this study, researchers identified a rare form of hereditary hypotrichosis linked to mutations in the LSS gene, which affects cholesterol biosynthesis and is inherited in an autosomal recessive manner.

This study found that scarring alopecia is common in autosomal recessive congenital ichthyosis patients and significantly correlates with the disease's severity, highlighting the need for thorough hair evaluations in clinical management.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This study characterizes alopecia in ARCI, highlighting its prevalence among patients with severe forms and revealing new associated trichoscopic features.

This study reported that topical ω‐0‐acylceramide improved skin barrier function in Jack Russell Terriers with TGM1-deficient autosomal recessive congenital ichthyosis, normalizing skin pH and reducing transepidermal water loss.

In this study, a 3-year-old Japanese child with autosomal recessive woolly hair was found to have a distinctive irregular and rough cuticle on the hair shaft, along with a homozygous pathogenic LIPH variant, suggesting a critical role for genetic analysis in understanding rare hair conditions.

This review highlights the ongoing need for novel treatments for autosomal recessive congenital ichthyoses, suggesting that drug repositioning, utilizing existing medications or biologics, could provide more affordable and effective options for managing this lifelong skin condition.

This letter reports the first known Japanese case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene.

In this case study, a 6-year-old child with autosomal recessive woolly hair showed significant hair growth and sustained improvement with a 4-year combination treatment of botanical extracts, though the precise mechanisms need further research.

This study suggested that differences in hair follicle development, indicated by the frequency of underdeveloped hairs, significantly contribute to the variation in hair loss severity among Japanese individuals with the LIPH c.736T>A mutation.

This study identified that in Japanese patients with autosomal recessive woolly hair/hypotrichosis, the c.736T > A LIPH mutation is associated with a mild phenotype, while the c.742C > A mutation may lead to severe baldness.

This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.