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Background: Various methods exist to manage unwanted hair in low hairline microtia. We present our 10-year experience that compares the two procedures toward all degrees of low hairline microtia. Methods: The tongue-shaped split-thickness skin graft procedure (modified Chen's procedure) and the modified Nagata procedure were used for ear reconstruction in 42 microtia patients with three degrees of low hairlines from 2010 to 2020. Hair follicles in the low hairline area were removed free-hand, and the removed area was replaced with extended temporoparietal fascia (TPF) flap during the ear elevation. The satisfaction score and the clearance percentages of the hair were used as outcome measures. Results: There was no significant difference in satisfaction scores and the hair clearance percentages of hair between two procedures ( p  > 0.05) and among three degrees of low hairline ( p  > 0.05), respectively. Although the complication rate showed no significant difference, the major types of complication in modified Chen's procedure was fluid accumulation (9.52%), whereas in modified Nagata procedure was hypertrophic scar (4.76%). Conclusion: Patients with low hairlines can be treated using two different microtia reconstruction techniques to limit hair growth on the new ear. The rib graft construct is covered by a TPF flap, which is then grafted with an ultrathin skin graft and shows benefit in this review of our 10-year experience. Clinical Trial Registration Information Provided: Registration no. and date registered: ChiCTR2000030214.

Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical and molecular spectrum of WSS in diverse populations, to identify physical features that may be more prevalent in White versus Black Indigenous People of Color individuals, to delineate genotype-phenotype correlations, to define developmental milestones, to describe the syndrome through adulthood, and to examine clinicians' differential diagnoses. Sixty-nine of the 82 variants (84%) observed in the study were not previously reported in the literature. Common clinical features identified in the cohort included: developmental delay or intellectual disability (97%), constipation (63.8%), failure to thrive (67.7%), feeding difficulties (66.3%), hypertrichosis cubiti (57%), short stature (57.8%), and vertebral anomalies (46.9%). The median ages at walking and first words were 20 months and 18 months, respectively. Hypotonia was associated with loss of function (LoF) variants, and seizures were associated with non-LoF variants. This study identifies genotype-phenotype correlations as well as race-facial feature associations in an ethnically diverse cohort, and accurately defines developmental trajectories, medical comorbidities, and long-term outcomes in individuals with WSS., (© 2021 Wiley Periodicals LLC.)

Cantú syndrome (CS) was first described in 1982, and is caused by pathogenic variants in ABCC9 and KCNJ8 encoding regulatory and pore forming subunits of ATP-sensitive potassium (K ATP ) channels, respectively. It is characterized by congenital hypertrichosis, osteochondrodysplasia, extensive cardiovascular abnormalities and distinctive facial anomalies including a broad nasal bridge, long philtrum, epicanthal folds, and prominent lips. Many genetic syndromes, such as CS, involve facial anomalies that serve as a significant clue in the initial identification of the respective disorder before clinical or molecular diagnosis are undertaken. However, an overwhelming number of CS patients receive misdiagnoses based on an evaluation of coarse facial features. By analyzing three-dimensional images of CS faces, we quantified facial dysmorphology in a cohort of both male and female CS patients with confirmed ABCC9 variants. Morphometric analysis of different regions of the face revealed gender-specific significant differences in face shape. Moreover, we show that 3D facial photographs can distinguish between CS and other genetic disorders with specific facial dysmorphologies that have been mistaken for CS-associated anomalies in the past, hence assisting in an earlier clinical and molecular diagnosis. This optimizes genetic counseling and reduces stress for patients and parents by avoiding unnecessary misdiagnosis., (© 2020 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals, Inc.)

Rationale: Wiedemann-Steiner syndrome (WDSTS, online mendelian inheritance in man 605130) is a rare autosomal dominant disorder characterized by hypertrichosis cubiti. Here, we report a Chinese boy who do not show the characteristic of hypertrichosis cubiti, and was misdiagnosed as blepharophimosis-ptosis-epicanthus inversus syndrome at first. We found a de novo frameshift mutation (p.Glu390Lysfs*10) in the KMT2A gene, which was not reported before. Our study increases the cohort of Chinese WDSTS patients, and expand the WDSTS phenotypic and variation spectrum., Patient Concerns: The patient demonstrated typical craniofacial features of blepharophimosis-ptosis-epicanthus inversus syndrome, including small palpebral fissures, ptosis, telecanthus, and epicanthus inversus, besides he had congenital heart disease (ventricular septal defects), strabismus, hypotonia, amblyopia, delayed speech and language development, delayed psychomotor development, and amblyopia (HP:0000646) which was not reported before., Diagnosis: FOXL2 gene was cloned and sequenced, however, there was no mutation detected in this patient. The result of Chromosomal microarray analysis was normal. The patient was diagnosed as WDSTS by whole exome sequencing., Interventions: The patient received cardiac surgery, frontalis suspension and regular speech and occupational therapy. He also treated with growth hormone (GH)., Outcomes: The patient's symptoms are improved after cardiac surgery and frontalis suspension, he can express himself well now and had a 10 cm gain in height., Lessons: As the relationship between genotype and phenotype becomes more and more clear, WES is incredibly powerful tool to diagnose the disease of WDSTS.

Lipids and lipid metabolism are critical factors in hair follicle (HF) biology, and cholesterol has long been suspected of influencing hair growth. Altered cholesterol homeostasis is involved in the pathogenesis of primary cicatricial alopecia, mutations in a cholesterol transporter are associated with congenital hypertrichosis, and dyslipidaemia has been linked to androgenic alopecia. The underlying molecular mechanisms by which cholesterol influences pathways involved in proliferation and differentiation within HF cell populations remain largely unknown. As such, expanding our knowledge of the role for cholesterol in regulating these processes is likely to provide new leads in the development of treatments for disorders of hair growth and cycling. This review describes the current state of knowledge with respect to cholesterol homeostasis in the HF along with known and putative links to hair pathologies., (© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder characterized by growth retardation, facial dysmorphism, hypertrichosis cubiti and neurodevelopment delay. It is caused by pathogenic variants in the KMT2A gene. This report describes two unrelated Portuguese patients, age 11 and 17 years, with a phenotype concordant with WSS and clinical and molecular diagnosis of WSS by the identification of two novel frameshift variants in the KMT2A gene. This work also highlights the presence of certain clinical features in patients with growth retardation and development delay and should draw attention to the diagnosis of WSS, when hirsutism, particularly hypertrichosis cubiti is present., (© 2019 Wiley Periodicals, Inc.)

Hypertrichosis cubiti is a localized increase in hair density, length and thickness. It is an uncommon and benign entity with very few patients described in the medical literature (more or less than half a hundred). Half of the described patients associate other defects or malformations and the other half are purely aesthetic cases. Early pubarche in girls is defined as the onset of pubic hair before 8 years of age. We present a six-year-old patient with the association not previously described of hypertrichosis cubiti and precocious pubarche., (Sociedad Argentina de Pediatría.)

Competing Interests: There are no conflicts of interest.

We report a case of congenital hypertrichosis and FOXN1 duplication. FOXN1 is a member of the forkhead box gene family, located on chromosome 17. Its function includes differentiation of epithelial cells and regulation of keratinocytes, especially hair keratins. Loss of function of these transcription factors leads to a disruption in hair growth. As far as we are aware, this is the first case of FOXN1 duplication associated with congenital hypertrichosis to be reported in the literature., (© 2017 Wiley Periodicals, Inc.)

We report a case of transient neonatal cutis laxa and hypertrichosis lanuginosa as an initial presentation in Sotos syndrome. Little is known about skin involvement in Sotos syndrome. Our observation highlights that Sotos syndrome is a rare cause of cutis laxa and suggests that it is a useful neonatal skin clue to the diagnosis of overgrowth syndromes., (© 2016 Wiley Periodicals, Inc.)

Congenital generalized hypertrichosis associated with gingival hyperplasia are rare cases published in literature. The frequency incidence of generalized congenital hypertrichosis is about one to billions of people. Hypertrichosis and gingival hyperplasia are termed as Ambras syndrome (AS), which can be noticed at birth or soon after. Here, is a rare case report of 4-year-old male child who presented with generalized hypertrichosis with gingival fibromatosis and dysmorphic facial features.

People with rare hypertrichosis syndromes became crowd-drawing money-making phenomena in many 19th century sideshow acts. These individuals have been referred to as dog-men, hair-men, and werewolves. In 1993, Baumister et al. described congenital hypertrichosis lanuginose or Ambras syndrome: a distinct form of congenital hypertrichosis characterized by excessive hair growth over the body and face associated with facial and occasional dental anomalies. Much is not known about this syndrome since fewer than 50 cases have been documented worldwide. In this case report, a nine year old girl presented with excessive hair growth throughout her body that was denser along her midline. Furthermore, her face displayed the typical dysmorphic features characteristic of Ambras syndrome: a round tip nose, thickened nasal cartilage, antiverted nares, prominent philtrum with deep groove, and a trapezoid mouth. Oral examination revealed normal oral mucosa with completely missing and unerupted decidious and permanent teeth. Panoramic radiographs confirmed unerupted deciduous teeth. Previous case reports have mentioned the presence of occasional dental anomalies such as retarded first and second dentition and absence of some teeth. However, this is the first reported case of Ambras syndrome presenting with complete anodontia. Prior cytogenetic studies performed on persons with Ambras syndrome have implicated a balanced pericentric inversion of chromosome 8. However, it is likely that dental anomalies are likely a result of a different genetic rearrangement. Further studies are needed to explore the cause of this rare phenotype of Ambras syndrome with complete unerupted dentition.

Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution.Hypertrichosis is classified according to age of onset (congenital or acquired), extent of distribution (generalized or circumscribed), site involved, and to whether the disorder is isolated or associated with other anomalies. Congenital hypertrichosis is rare and may be an isolated condition of the skin or a component feature of other disorders. Acquired hypertrichosis is more frequent and is secondary to a variety of causes including drug side effects, metabolic and endocrine disorders, cutaneous auto-inflammatory or infectious diseases, malnutrition and anorexia nervosa, and ovarian and adrenal neoplasms. In most cases, hypertrichosis is not an isolated symptom but is associated with other clinical signs including intellective delay, epilepsy or complex body malformations.A review of congenital generalized hypertrichosis is reported with particular attention given to the disorders where excessive diffuse body hair is a sign indicating the presence of complex malformation syndromes. The clinical course of a patient, previously described, with a 20-year follow-up is reported.

Congenital generalized hypertrichosis terminalis (CGHT) is a heterogenous group of diseases with continuing excessive growth of terminal hair. "Ambras syndrome" was first coined by Baumeister in 1993 to describe a case of nonsyndromic CGHT which was erroneously analogized to the portrait paintings of Petrus Gonzales and his children, exhibited in Ambras Castle near Innsbruck, Austria. This family probably, a syndromic type with abnormal dentition, inherited as an autosomal dominant trait. CGHT associated with gingival hyperplasia is probably a particular entity typified by the historical cases of Julia Pastrana and her son. An X-linked type of CGHT has likewise been categorized as "Ambras syndrome". Moreover, some reports have mistakenly classified "Ambras syndrome" as an example of hypertrichosis lanuginosa. Potential gene loci identified so far may include 8q22, 17q24.2-q24.3 and Xq24-q27.1. The designation "Ambras syndrome" has thus been applied to various types of congenital hypertrichosis that differ to such degree that the name "Ambras" has no specific meaning, neither in the past nor in the future. Hence, this misleading term should now be jettisoned.

We report the case of a girl with hypertrichosis lanuginosa congenita treated with diode laser depilation since the age of 9 months. The treatment was well tolerated, and neither general nor local anesthesia was needed. A reduction of approximately 80% of facial and body hair was noted, which improved her condition significantly., (© 2012 Wiley Periodicals, Inc.)

A 23-year-old woman presented to our hospital with 9 months history of progressive ataxia, visual loss since childhood due to retinitis pigmentosa and primary amenorrhea. On examination, there were also sparse scalp hair, very long and curled upwards eyelashes and short stature. Oliver-McFarlane syndrome was suspected. Brain MRI disclosed cerebellar atrophy and hyperintense signal in corticospinal tracts on FLAIR and T2-weighted images. Therefore, brain imaging must be thoroughly investigated in patients with suspected Oliver-McFarlane syndrome, in order to determinate whether cerebellar atrophy and hyperintense signal in corticospinal tracts are part of this neurological condition., (Copyright © 2013 by the American Society of Neuroimaging.)

Inherited hypertrichoses are rare syndromes characterized by excessive hair growth that does not result from androgen stimulation, and are often associated with additional congenital abnormalities. In this study, we investigated the genetic defect in a case of autosomal recessive congenital generalized hypertrichosis terminalis (CGHT) (OMIM135400) using whole-exome sequencing. We identified a single base pair substitution in the 5' donor splice site of intron 32 in the ABC lipid transporter gene ABCA5 that leads to aberrant splicing of the transcript and a decrease in protein levels throughout patient hair follicles. The homozygous recessive disruption of ABCA5 leads to reduced lysosome function, which results in an accumulation of autophagosomes, autophagosomal cargos as well as increased endolysosomal cholesterol in CGHT keratinocytes. In an unrelated sporadic case of CGHT, we identified a 1.3 Mb cryptic deletion of chr17q24.2-q24.3 encompassing ABCA5 and found that ABCA5 levels are dramatically reduced throughout patient hair follicles. Collectively, our findings support ABCA5 as a gene underlying the CGHT phenotype and suggest a novel, previously unrecognized role for this gene in regulating hair growth.

Background: Anterior cervical hypertrichosis is a rare and little-known form of congenital localized hypertrichosis. It is characterized by the presence of a tuft of terminal hairs in the anterior cervical region. We report four typical clinical observations of this condition., Patients and Methods: Four patients aged from 5 to 21 years were seen for a tuft of terminal long hair on the neck, next to the cricoid cartilage, recorded at birth or during early childhood. There was no indication of previous trauma or topical drug application. No similar familial history was found. In one case, histological examination performed for suspicion of an "atypical" smooth muscle hamartoma contributed nothing of note. No neurological abnormalities were observed. In one case there was a history of chronic juvenile idiopathic arthritis and familial thyroid disease. Treatment with 5 sessions of laser hair removal was proposed in one case and the improvement was considered satisfactory by the patient., Discussion: Anterior cervical hypertrichosis constitute a specific clinical picture of a benign nature, and is sometimes associated with neurological, orthopaedic or ocular abnormalities. Although rarely reported, its frequency is probably underestimated., (Copyright © 2013 Elsevier Masson SAS. All rights reserved.)

A boy aged 6 years was referred to our clinic for evaluation of the presence of fair, thin hair on both of his elbows. This condition had first been observed when he was 2 years of age and the hair had subsequently increased in length and thickness (Figure 1). He had a history of asthma and was being treated by a paediatrician. His family medical record was otherwise unremarkable. This unusual hairiness was symmetrically distributed on the extensor surfaces of both proximal forearms and distal arms. The underlying skin showed no abnormalities. No hypertrichosis was found elsewhere and examination of teeth, skeleton and fingernails was also normal. No other morphological changes were noted. In addition, his height was appropriate for his age. No developmental, mental or physical impairment was observed. The blood cell count and general biochemistry, as well as thyroid and sexual hormonal profiles were all normal. Radiological examination, which was performed on the parents' request, was normal. The boy was diagnosed with hypertrichosis cubiti (HC), and shaving of the areas was recommended.

A congenital smooth muscle hamartoma is a rare, benign proliferation of smooth muscle bundles in the dermis that is usually diagnosed in the neonatal period or infancy. Surgical excision is the first-line therapeutic option, but in certain areas such as the face, surgery may be too aggressive, and different treatments should be considered. We present the case of a congenital smooth muscle hamartoma on the face treated using pulsed dye laser with good response., (© 2012 Wiley Periodicals, Inc.)

X-linked congenital generalized hypertrichosis (Online Mendelian Inheritance in Man 307150) is an extremely rare condition of hair overgrowth on different body sites. We previously reported linkage in a large Mexican family with X-linked congenital generalized hypertrichosis cosegregating with deafness and with dental and palate anomalies to Xq24-27. Using SNP oligonucleotide microarray analysis and whole-genome sequencing, we identified a 389-kb interchromosomal insertion at an extragenic palindrome site at Xq27.1 that completely cosegregates with the disease. Among the genes surrounding the insertion, we found that Fibroblast Growth Factor 13 (FGF13) mRNA levels were significantly reduced in affected individuals, and immunofluorescence staining revealed a striking decrease in FGF13 localization throughout the outer root sheath of affected hair follicles. Taken together, our findings suggest a role for FGF13 in hair follicle growth and in the hair cycle.

Congenital Hypertrichosis Lanugionsa is a rare autosomal dominant genetic disorder, with fewer than 50 cases reported in the literature. It is characterized by excessive lanugo hair, sparing only the mucous membranes, palms and soles. It may be associated with other organic abnormalities and should form part of the dermatologist's current knowledge. We discuss some aspects of the syndrome in question arising from the case report of a 2-year-old female patient, black, with classic clinical presentation, with no other associated congenital abnormalities.

Spina bifida is a developmental anomaly characterized by defective closure of the bony encasement of the spinal cord through which the spinal cord and meninges may or may not protrude. We report a rare case of a very long faun tail, which was in the form of a 20 inch long tail originating from the lumbosacral area in a rhomboidal pattern, measuring 10 x 8 inches. The case is being reported for its rare presentation of a 20 inch long faun tail with underlying spina bifida occulta.

Excessive growth of terminal hair around the elbows (hypertrichosis cubiti) has been reported both in isolation and in association with a variable spectrum of associated phenotypic features. We identified a cohort of six individuals with hypertrichosis cubiti associated with short stature, intellectual disability, and a distinctive facial appearance, consistent with a diagnosis of Wiedemann-Steiner syndrome (WSS). Utilizing a whole-exome sequencing approach, we identified de novo mutations in MLL in five of the six individuals. MLL encodes a histone methyltransferase that regulates chromatin-mediated transcription through the catalysis of methylation of histone H3K4. Each of the five mutations is predicted to result in premature termination of the protein product. Furthermore, we demonstrate that transcripts arising from the mutant alleles are subject to nonsense-mediated decay. These findings define the genetic basis of WSS, provide additional evidence for the role of haploinsufficency of histone-modification enzymes in multiple-congenital-anomaly syndromes, and further illustrate the importance of the regulation of histone modification in development., (Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Hypertrichosis is abnormal increase in body hair, when it becomes extensive known as Were Wolf Syndrome. Any part of body can be affected and body hairs are longer and darker. Hairs may be of any type like lanugo, vellous or terminal. It may be present since birth or may occur later in life. A 8 years old boy was admitted in our hospital with excess body hair, he was diagnosed as a case of Were Wolf syndrome after excluding possible acquired causes of hypertrichosis. He had history of delayed developmental milestone and has been suffering from epilepsy. He was treated with developmental stimulation and anti epileptic drug. Then he was discharged after proper counseling.

We report a case of 1-year-old girl with congenital hypertrichosis terminalis treated using intense pulsed light for hair removal. Repeated sessions were performed every 3 weeks. Facial hair reduction was achieved after 12 sessions and body hair reduction after 15 sessions. Intense pulsed light resulted in 75% reduction of hair in congenital hypertrichosis terminalis., (© 2011 Wiley Periodicals, Inc.)

X-linked congenital generalized hypertrichosis (CGH), an extremely rare condition characterized by universal overgrowth of terminal hair, was first mapped to chromosome Xq24-q27.1 in a Mexican family. However, the underlying genetic defect remains unknown. We ascertained a large Chinese family with an X-linked congenital hypertrichosis syndrome combining CGH, scoliosis, and spina bifida and mapped the disease locus to a 5.6 Mb critical region within the interval defined by the previously reported Mexican family. Through the combination of a high-resolution copy-number variation (CNV) scan and targeted genomic sequencing, we identified an interchromosomal insertion at Xq27.1 of a 125,577 bp intragenic fragment of COL23A1 on 5q35.3, with one X breakpoint within and the other very close to a human-specific short palindromic sequence located 82 kb downstream of SOX3. In the Mexican family, we found an interchromosomal insertion at the same Xq27.1 site of a 300,036 bp genomic fragment on 4q31.2, encompassing PRMT10 and TMEM184C and involving parts of ARHGAP10 and EDNRA. Notably, both of the two X breakpoints were within the short palindrome. The two palindrome-mediated insertions fully segregate with the CGH phenotype in each of the families, and the CNV gains of the respective autosomal genomic segments are not present in the public database and were not found in 1274 control individuals. Analysis of control individuals revealed deletions ranging from 173 bp to 9104 bp at the site of the insertions with no phenotypic consequence. Taken together, our results strongly support the pathogenicity of the identified insertions and establish X-linked congenital hypertrichosis syndrome as a genomic disorder., (Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Background and Objectives: Almost all newborn children have some sort of birthmark or transient benign skin lesion. Few studies, however, have analyzed their frequency, particularly in Spain. The aims of this study were to determine their prevalence in 1000 newborn children in the health care area of Ferrol in northwest Spain and to compare the results with those of 9 other studies with similar characteristics., Patients and Methods: We undertook a descriptive study of 1000 newborn infants seen in the first 3 days of life at the neonatal clinic in the Department of Pediatrics, Hospital Arquitecto Marcide, Ferrol, Spain. Each infant was examined for the presence of 19 different transient benign skin lesions and 11 birthmarks., Results: Birthmarks or benign skin lesions were present in 994 neonates (99.4%). Transient skin lesions were present in 99.2% and birthmarks in 72%. The 5 most prevalent lesions were sebaceous hyperplasia (75%), salmon patch (64.2%), hypertrichosis (59%), sucking calluses (54%), and palatine cysts (53.7%)., Conclusions: The results of this study show that most neonates have benign skin lesions. The findings of studies to assess their frequency are influenced not only by geographic location (affecting variables such as climate, social and health care conditions, and ethnic group) but also by the timing of examination, the inclusion criteria applied, and the terminology used., (Copyright © 2010 Elsevier España, S.L. y AEDV. All rights reserved.)

Hypertrichosis cubiti, also named hairy elbows syndrome, is an uncommon variety of congenital, circumscribed hypertrichosis with a remarkable amount of long vellous hair localized on the extensor surfaces of the upper extremities. It may appear both as a familial or sporadic form. In most patients, it is not associated with any other physical anomalies, although short stature and other development disorders have been described. We report a case occurring sporadically in a 5-year-old girl without associated abnormalities, and with a negative family history.

We report on a patient with congenital generalized hypertrichosis, mental retardation, tonic-clonic seizures with onset during the first year of life and gingival overgrowth, unrelated to antiepileptic treatment. This phenotype represents a unique combination of features, bridging the variable association of gingival overgrowth, generalized hypertrichosis, mental retardation or epilepsy. This may occur in combination with nail and/or digital anomalies, as in Zimmermann-Laband syndrome, and the broader phenotypes of the Anavi, Göhlich-Ratmann and Ramon syndromes. On the basis of the clinical overlap between our patient and these disorders inherited either as autosomal dominant or recessive traits and unknown molecular defects, a recurrence risk of one in four was considered appropriate.

We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at the back, dry lax skin, macrostomia, thin lips, cup-shaped ears, bulbous nose, hypoplastic nipples, and abnormal external genitalia. She also demonstrated conductive hearing impairment and microblepharon. BSS has been reported with ectropion (not present in our patient), but ablepharon and microblepharon (i.e., absent or hypoplastic eyelids) have always been considered as hallmarks of ablepharon macrostomia syndrome (AMS). This is the first report of microblepharon in BSS. Other authors have discussed that BSS and AMS could possibly represent one syndrome, and our report supports this hypothesis.