22 citations
,
October 2004 in “Journal of Investigative Dermatology” This study identified the rough coat mutation in mice, but found that LOXL is not the causal gene, although its downregulation might contribute to related phenotypic changes.
7 citations
,
April 2021 in “Journal of Lower Genital Tract Disease” This study concluded that erosive lichen sclerosus is a distinct subtype marked by red patches on hairless skin, while ulcerated lichen sclerosus typically results from trauma in uncontrolled dermatosis.
9 citations
,
October 2022 in “Journal of Molecular Neuroscience” This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.
2 citations
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June 2024 in “Frontiers in Plant Science” This study found that RALF peptides, through liquid-liquid phase separation, form condensates with pectin and other proteins, playing a pivotal role in plant development and stress response regulation.
January 2024 in “Wiadomości Lekarskie” In this study, a child's diagnosis of Silver-Russell syndrome was confirmed through phenotype data, genetic testing, and the exclusion of other developmental conditions, revealing a need for a multidisciplinary care approach.
10 citations
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June 2019 in “Case reports in dermatology” This paper presents a case of a young male with linear and annular lupus panniculitis of the scalp, detailing trichoscopic findings and their correlation with histopathological features, but reports no new generalizable results.
March 2025 in “Journal of Investigative Dermatology”
1 citations
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January 2023 in “Journal of Drugs in Dermatology” This review discusses Graham-Little Piccardi-Lasseur syndrome, a rare dermatosis with limited treatment options, emphasizing the importance of early diagnosis through physical exam and dermoscopy, but reports no new results.
8 citations
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November 2009 in “The Neurologist/The neurologist” This case report highlights a 21-year-old woman with seizures, mental retardation, spastic diplegia, and ichthyosis consistent with Sjogren-Larsson syndrome, and emphasizes the importance of differential diagnosis when additional symptoms are present.
3 citations
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September 2015 in “Journal of Vascular Surgery” This study found that chemical lumbar sympathectomy with 5% phenol effectively treated idiopathic livedo reticularis in most patients, offering a potential long-lasting solution with repeatable efficacy upon recurrence.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
2 citations
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November 2023 in “Skin Research and Technology” This study found that RCM combined with dermoscopy can differentiate disease states between alopecia areata, tinea capitis, nevus sebaceous, and linear scleroderma of the scalp by identifying distinct dermal and follicular patterns.
June 2026 in “British Journal of Dermatology” In this real-world study, 27% of alopecia areata patients treated with ritlecitinib achieved a target SALT score, a result consistent with clinical trial findings, highlighting the value of patient-reported outcomes in understanding treatment impact beyond traditional measures.
6 citations
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May 2020 in “British Journal of Dermatology” This abstract discusses Lichen Sclerosus, a chronic skin condition affecting the genitals, highlighting its symptoms, complications, and impact on quality of life, but reports no new clinical findings.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This study reports a rare case of two siblings with lipoedematous scalp, suggesting a possible genetic link that warrants further investigation.
5 citations
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May 2022 in “Diagnostics” This study found that certain lncRNA gene polymorphisms in HOTAIR and MALAT1 are associated with increased susceptibility to systemic lupus erythematosus, potentially informing clinical applications.
April 2023 in “Journal of Investigative Dermatology” RNase L suppresses regeneration in mammals.
1 citations
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January 2020 in “Skin appendage disorders” This case study documents the co-existence of trichorhinophalangeal syndrome and loose anagen syndrome in a patient, highlighting a previously unreported association between the two conditions.
1 citations
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December 2022 in “Pediatric dermatology” This case report highlighted an instance of lichen spinulosus emerging as a new cutaneous sequela in a boy following toxic epidermal necrolysis, responding to treatment with ammonium lactate.
This report presents a rare case of lichen spinulosus in a 52-year-old woman, featuring hyperkeratotic follicular papules and a dense lymphohistiocytic infiltrate in affected skin areas.
In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.
April 2023 in “Journal of Investigative Dermatology” In this systematic review, researchers found that individuals with lichen sclerosus have a higher prevalence of comorbidities like vitiligo, alopecia areata, and cardiovascular diseases compared to non-affected controls, and suggest screening all LS patients for cardiovascular risk factors and other diseases.
2 citations
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March 2019 in “PubMed” This report presents the early development of the Lupus Foundation of America's LFA-REAL™ patient-reported instrument, designed to enhance evaluation of lupus disease activity by combining patient and physician assessments.
23 citations
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February 2020 in “PLOS genetics” This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.
This case report describes a young female with Rhupus syndrome, characterized by symptoms of both Systemic Lupus Erythematosus and Rheumatoid Arthritis, who achieved clinical remission with treatment.
January 2026 in “Forum Dermatologicum” This study reviewed cases of Graham–Little-Piccardi–Lassueur syndrome and found that topical treatments were generally ineffective, while systemic therapies like prednisone, hydroxychloroquine, and isotretinoin led to partial hair regrowth and disease stabilization, highlighting the importance of early diagnosis and systemic therapy to improve outcomes.
2 citations
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November 2023 in “Indian Dermatology Online Journal” In this case report, a 4-year-old Indian girl with linear and annular lupus panniculitis of the scalp achieved complete remission and hair regrowth with oral corticosteroids, showing no relapse after 6 months of follow-up.
55 citations
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November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
38 citations
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January 2023 in “International Journal of Medical Sciences” This review discusses the potential of repeated low-level red-light therapy to inhibit myopia progression through metabolic effects, highlighting its molecular and cellular impact, but reports no new clinical results.
September 2022 in “Research Square (Research Square)” This study found that overexpressing Rps14 in supporting cells promoted hair cell regeneration in the organ of Corti by facilitating cell proliferation and differentiation.