49 citations
,
January 2013 in “Dermatologic Therapy” This review discusses the varying neonatal presentations of Mendelian disorders of cornification (ichthyosis) based on phenotypic groups but reports no new clinical results; the authors suggest categorizing these presentations to guide diagnosis and treatment.
58 citations
,
November 1969 in “British Journal of Dermatology” This report describes two patients with ichthyosis linearis circumflexa exhibiting symptoms resembling Netherton's disease, noting multiple hair shaft defects and discussing a possible connection to aminoaciduria.
38 citations
,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified histologic lesions and a defect in adhesion molecules causing hair loss in mice with the bal mutation, linked to a mutation in the desmoglein 3 gene.
May 2025 in “Indian Dermatology Online Journal” This case report highlighted two atypical childhood alopecia cases: congenital atrichia without papules and Bjornstad syndrome with alopecia areata; emphasizing diagnostic challenges, notably the absence of keratotic papules usually associated with congenital atrichia and the presence of alopecia areata in Bjornstad syndrome.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.
14 citations
,
June 1989 in “Journal of dermatology” This report describes the first documented occurrence of Vohwinkel's disease combined with congenital alopecia universalis in siblings from the same family, both unresponsive to prior treatments.
30 citations
,
June 1993 in “The Journal of Cell Biology” This study found that transgenic mice expressing a mutant E1a oncoprotein in their skin had disturbed hair follicle maturation but did not show increased tumor development or proliferation.
57 citations
,
March 2011 in “Pediatric Dermatology” In this study, skin manifestations were observed in 48% of children with primary immunodeficiency disorders, often providing crucial diagnostic clues for early identification of these conditions.
October 2019 in “European Journal of Dermatology” This review discusses the diagnosis and treatment of pityriasis rubra pilaris and reports no new clinical results.
10 citations
,
October 2018 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” This review discusses the skin and systemic conditions associated with Down syndrome and reports no new clinical results, emphasizing the need for awareness of these manifestations in diagnosis.
August 2023 in “Acta Scientific Paediatrics” This case study reported a neonate of Indian descent with localized hypotrichosis type 1 due to a likely pathogenic deletion in the DSG4 gene, marking the first such case from India.
2 citations
,
August 2012 in “Journal of the American Academy of Dermatology” This correspondence describes two patients with both epidermolysis bullosa simplex, Dowling-Meara type, and loose anagen hair syndrome, an association not previously reported in the literature.
2 citations
,
June 2013 in “Journal of Dermatological Case Reports” This article presents a case of Olmsted syndrome in a 5-year-old boy, adding to the limited number of reported cases of this rare keratinization disorder.
April 2018 in “Nasza Dermatologia Online” This case report describes an 8-year-old child with Down's syndrome who presented with eruptive syringomas on the face and hand.
41 citations
,
January 2015 in “Development” This study found that inducing Atoh1 expression in transgenic mice is sufficient to generate new Merkel cells in the epidermis, with variations by skin location, developmental age, and hair cycle stage.
18 citations
,
February 2001 in “Der Hautarzt” This case study of a 50-year-old woman with myotonic dystrophy and multiple basal cell carcinomas suggests there could be a genetic predisposition for certain cutaneous tumors in such patients.
3 citations
,
December 2013 in “Balkan Journal of Medical Genetics” This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.
This chapter reviews the clinical and morphological diagnostic features of various hair dysplasias, including atypical pili torti, pseudomonilethrix, and trichothiodystrophy, and reports no new results.
April 2018 in “Journal of Investigative Dermatology” This article proposes a new classification system for cutaneous adnexal cysts based on their origin in the folliculo-sebaceous unit and sweat glands, aiming to clarify their categorization and origins.
April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identifies key transcriptomic features and a necessary dermal niche for eccrine gland development, advancing potential regenerative approaches for these vital skin appendages.
November 2023 in “Global Medical Genetics” This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.
17 citations
,
July 1984 in “British journal of dermatology/British journal of dermatology, Supplement” This study describes a distinctive form of ichthyosis characterized by abnormal epidermal differentiation mainly within hair follicles in four patients with congenital follicular hyperkeratosis.
May 2015 in “European Journal of Paediatric Neurology” This study describes three additional cases of encephalocraniocutaneous lipomatosis, emphasizing the importance of examining patients with ocular and ipsilateral skin lesions for this rare neurocutaneous disorder.
34 citations
,
January 1998 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” This report describes four trichoblastoma cases rich in Merkel cells, suggesting these tumors may mimic fetal skin development where Merkel cells are numerous.
April 2023 in “Journal of Investigative Dermatology” This study found that in a mouse model of Gorlin syndrome, constitutive activation of signaling in dermal cells led to abnormal follicular growth, indicating non-epidermal factors may contribute to the disease.
28 citations
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” This article reviews phenotypic variability linked to WNT10A nonsense mutations and does not present new research findings.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” This case report describes a patient with a rare combination of imperfect osteogenesis and Escobar syndrome, highlighting the genetic complexity and clinical manifestations of these conditions.
35 citations
,
May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
17 citations
,
May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
7 citations
,
September 1980 in “Zoological Journal of the Linnean Society” This study observed that dermal dendritic cells migrate to the epidermis in mouse tail and back skin, correlating with changes in epidermal physiology like ortho- and parakeratosis.