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Skinmed 2018A wide range of conditions can present with congenital hypotrichoses/atrichia. Awareness of these conditions can help in the proper and timely diagnosis and counseling... (Review)
Review
A wide range of conditions can present with congenital hypotrichoses/atrichia. Awareness of these conditions can help in the proper and timely diagnosis and counseling of affected families, and in some cases avoid unnecessary investigations. The rapid growth in genetic analysis of diseases has also led to an increased knowledge of the genetic and molecular basis of many of these conditions. This contribution briefly reviews updates on some of the most common conditions associated with congenital hypotrichosis/atrichia.
Topics: Alopecia; Humans; Hypotrichosis
PubMed: 29551108
DOI: No ID Found -
Dermatology (Basel, Switzerland) 1998Hypotrichosis is a relatively common feature of a number of complex hereditary syndromes. However, the isolated variant, called hereditary hypotrichosis simplex (HHS),... (Review)
Review
Hypotrichosis is a relatively common feature of a number of complex hereditary syndromes. However, the isolated variant, called hereditary hypotrichosis simplex (HHS), is especially uncommon. We present a Spanish family with 8 of 19 persons covering 4 generations affected by HHS. No associated ectodermal or other defects were noted. The pedigree was compatible with an autosomal dominant inheritance with variable penetrance.
Topics: Child; Diagnosis, Differential; Humans; Hypotrichosis; Male; Pedigree
PubMed: 9621144
DOI: 10.1159/000017909 -
International Journal of Dermatology May 1999
Review
Topics: Hair; Hair Follicle; Humans; Hypotrichosis; Microscopy
PubMed: 10369537
DOI: 10.1046/j.1365-4362.1999.00005.x -
European Journal of Medical Genetics Nov 2022Pathogenic variants in SOX18 are associated with hypotrichosis-lymphedema-telangiectasia-renal defects syndrome (HLTRS) and hypotrichosis-lymphedema-telangiectasia... (Review)
Review
Pathogenic variants in SOX18 are associated with hypotrichosis-lymphedema-telangiectasia-renal defects syndrome (HLTRS) and hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). Eleven patients with SOX18 related HLTRS/HLTS have been previously described. Cardinal features include varying degrees of hypotrichosis, lymphedema and telangiectasias. We report a 15-year-old female patient with a likely de novo SOX18 pathogenic variant identified on duo exome sequencing. In addition to the classic features, the currently reported patient presented with novel clinical features including musculoskeletal abnormalities and strikingly poor wound healing. Chronic skin ulcers have been a major cause of morbidity for the patient and have led to significant functional limitation. Further, our experience with wound management has been detailed. We hope to improve understanding of the clinical spectrum of this ultra-rare disorder by reviewing the phenotypic features in all reported patients including our patient.
Topics: Adolescent; Alopecia; Female; Glomerulonephritis, Membranoproliferative; Humans; Hypotrichosis; Lymphedema; SOXF Transcription Factors; Telangiectasis
PubMed: 36096470
DOI: 10.1016/j.ejmg.2022.104607 -
Cutis Sep 2023
Topics: Humans; Scalp; Hypotrichosis; Hair; Alopecia; Pedigree
PubMed: 37903390
DOI: 10.12788/cutis.0866 -
World Journal of Pediatrics : WJP May 2011Alopecia present from birth includes a broad differential diagnosis and often represents a diagnostic and therapeutic challenge for the involved physician. (Review)
Review
BACKGROUND
Alopecia present from birth includes a broad differential diagnosis and often represents a diagnostic and therapeutic challenge for the involved physician.
DATA SOURCES
An initial correct diagnosis and classification is essential because structural hair defects may be the expression of a genetic disorder affecting hair growth, part of a congenital syndrome with accompanying hair malformations, or a marker for an underlying metabolic disorder and may impact the mental and physical development of a child. Pathological hair loss rarely occurs in the first year of life; however, it may be a leading symptom of many congenital diseases.
RESULTS
In recent years, the clinical and microscopic features of hereditary hair shaft disorders have been characterized and classified. Furthermore, significant progress has been made in our knowledge of genes that control the normal development and differentiation of hair follicles, and thus the research is to define and classify the hair disorders within a genetic basis.
CONCLUSIONS
In this article we discuss several types of genotrichosis and provide a practical classification based on their clinical features.
Topics: Alopecia; Aneurysm; Carcinoma, Basal Cell; Child; Cleft Lip; Cleft Palate; Deafness; Ectodermal Dysplasia; Eczema; Facies; Fingers; Growth Disorders; Hair Diseases; Hallermann's Syndrome; Histiocytoma, Benign Fibrous; Humans; Hypotrichosis; Ichthyosis; Intellectual Disability; Keratitis; Langer-Giedion Syndrome; Microcephaly; Nose; Skin Diseases, Genetic; Skin Neoplasms
PubMed: 21574026
DOI: 10.1007/s12519-011-0262-z -
Ophthalmic Genetics Dec 2019
Topics: Adolescent; Cadherins; Humans; Hypotrichosis; Macular Degeneration; Male; Mutation; Prognosis
PubMed: 31718366
DOI: 10.1080/13816810.2019.1688840 -
Cutis Nov 2023
Topics: Humans; Hypohidrosis; Hypotrichosis; Hair; Hyperpigmentation; Ectodermal Dysplasia
PubMed: 38091441
DOI: 10.12788/cutis.0908 -
The Australasian Journal of Dermatology Feb 2022
Topics: Hair; Hair Diseases; Humans; Hypotrichosis; Prognosis
PubMed: 34657286
DOI: 10.1111/ajd.13736 -
American Journal of Medical Genetics.... Sep 2023Congenital cataract is the most common cause of lifelong visual loss in children worldwide, which has significant genotypic and phenotypic heterogeneity. The LSS gene... (Review)
Review
Congenital cataract is the most common cause of lifelong visual loss in children worldwide, which has significant genotypic and phenotypic heterogeneity. The LSS gene encodes lanosterol synthase (LSS), which acts on the cholesterol biosynthesis pathway by converting (S)-2,3-oxidosqualene to lanosterol. The biallelic pathogenic variants in the LSS gene were found in congenital cataract, Alopecia-intellectual disability syndrome, hypotrichosis simplex, and mutilating palmoplantar keratoderma. In this study, we reported the first congenital nuclear cataract combined with hypotrichosis in a 12-year-old boy with biallelic LSS variants (c.1025T>G; p.I342S and c.1531_1532insT; p.L511Ffs*17) by exome sequencing. Reviewing all reported patients with LSS variants indicated that p.W629 might be a hotspot for hypospadias and p.I342S was associated with congenital cataract. Patients with one or two truncation variants tend to have multisystem symptoms compared with those with two missense variants. These findings deepen the understanding of LSS variants and contribute to the genetic counseling of affected families.
Topics: Male; Child; Humans; Hypotrichosis; Cataract; Alopecia; Pedigree
PubMed: 37455568
DOI: 10.1002/ajmg.a.63355