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At least 19 recordsLinked to original sources
PubMed1979

[Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)].

Report on a family with numerous relatives in 7 generations suffering from hypotrichosis congenita hereditaria Marie Unna type. Personal investigations were possible in 29 persons. 19 of them presented the characteristic features of the syndrome with pili torti, generalized inborn hypotrichosis and a type of baldness resembling androgenetic alopecia.

Adolescent↗
PubMed2002

A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy.

Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by early hair loss heralding severe degenerative changes of the retinal macula and culminating in blindness during the second to third decade of life. Recently, we identified a frameshift mutation in the CDH3 gene encoding P-cadherin as the proximal cause of hypotrichosis with juvenile macular dystrophy in four families. We report here another consanguineous family in which four members were diagnosed with hypotrichosis with juvenile macular dystrophy. Light and scanning electron microscopy revealed in all patients morphologic hair shaft abnormalities consistent with pili torti. Ocular fundus examination disclosed marked degeneration of the macular pigment epithelium. Electrophysiologic studies were diagnostic for severe retinal dysfunction. DNA sequence analysis of the entire coding sequence of CDH3 revealed in all affected individuals a homozygous missense mutation resulting in a single amino acid substitution at position 503 of P-cadherin sequence (R503H). The mutation completely segregated with the hypotrichosis with juvenile macular dystrophy phenotype in the family but was not detectable in 83 healthy, unrelated controls. The amino acid substitution affects a highly conserved residue and is predicted to alter a Ca2+ binding domain of P-cadherin. This is the first pathogenic missense mutation reported in CDH3 and the second mutation found to underlie hypotrichosis with juvenile macular dystrophy. Our data establish recessive mutations in CDH3 as the molecular cause of hypotrichosis with juvenile macular dystrophy and expand our understanding of the pathophysiology of this intriguing disorder.

Amino Acid Sequence↗
PubMed2003

Progressive patterned scalp hypotrichosis, with wiry hair, onycholysis, and intermittently associated cleft lip and palate: clinical and genetic distinction from Marie Unna.

Marie Unna hereditary hypotrichosis has been described in over a dozen families since 1924. Features include scant or no eyebrows at birth, the development of firm wiry hair in the first few years of life followed by a progressive patterned scalp alopecia in the second or third decade. This is associated with generalized hypotrichosis of the body and the condition is nonsyndromic. We have identified a novel form of autosomal dominant ectodermal dysplasia that resembles Marie Unna hereditary hypotrichosis in a family of 23 members over four generations. Affected individuals have patterned hair loss and associated hair shaft dystrophy similar to that seen in Marie Unna hereditary hypotrichosis. It differs from Marie Unna hereditary hypotrichosis by an absence of signs of affectation at birth, relative sparing of body hair, distal onycholysis, and intermittent cosegregation with autosomal dominant cleft lip and palate. Linkage studies to the known Marie Unna locus at 8p21 near the Hairless gene were performed. Linkage analysis using markers D8S298, D8S560, D8S258, and D8S282 revealed significant exclusion of this locus (Z = -2.0 or lower) at theta = 0.1. This demonstrates that this novel ectodermal dysplasia is both phenotypically and genetically distinct from Marie Unna hereditary hypotrichosis.

Adolescent↗
PubMed2006

Hair restoration surgery in patients with pubic atrichosis or hypotrichosis: review of technique and clinical consideration of 507 cases.

BACKGROUND: Pubic atrichosis or hypotrichosis is a common condition in Korean women of Mongolian origin. This results in many patients receiving hair restoration surgery, which is currently thought to be the only definitive therapy. OBJECTIVE: To pursue more natural and realistic-appearing results, to define patient characteristics, and to estimate the survival rate of transplanted pubic hair through restoration surgery, we examined our cases of pubic hair restoration surgery with single-hair grafts. METHODS: We selected 507 patients with pubic atrichosis or hypotrichosis who visited for pubic hair transplantation between March 1, 2001, and February 28, 2005. We reviewed the medical charts of the 507 patients and performed statistical analysis. We also carried out a detailed evaluation of our surgical technique to 100 patients. In addition, 20 patients, who agreed to participate in the study for survival rate, had received transplantation of 40 hairs in a 1.5 x 1.5-cm area after the angular points were tattooed. The number of hairs grown after 1 year of transplantation was counted in each case. RESULTS: Among the 507 subjects, 169(33.3%) were in their 40s. The mean (+/-SD) patient age was 41.3+/-10.8 years. Of these, 115 patients (22.7%) had pubic atrichosis, and 392 patients (77.3%) had pubic hypotrichosis. In addition, 81.7% of atrichosis patients had a family history of atrichosis or hypotrichosis. Pubic atrichosis accompanied axillary atrichosis or hypotrichosis in 60.0 and 38.2% of the cases, respectively. The most common reason for the hair restorative procedure was the subject's sense of inferiority to the same sex (73.8%). The mean number of transplanted hairs was 929.3+/-76.6. The most common design pattern that we used was modified horizontal type (87.0%). The mean survival rate of single-hair grafts on the pubis was 73.6+/-7.6%. CONCLUSION: This study suggested that pubic hair transplantation surgery is a suitable cosmetic procedure to address the inferiority complex of patients with pubic atrichosis or hypotrichosis. Knowledge of natural pubic pattern and normal physiologic features is essential to create a natural and realistic appearance in a given subject.

Adult↗
PubMed2000

[Congenital hypotrichosis and milia with spontaneous regression during adolescence or Oley syndrome: a variant of Bazex-Dupré-Christol syndrome].

BACKGROUND: We report a family presenting the syndrome initially described by Oley characterized by congenital profus milia and hypotrichosis that regress during adolescence. CASE REPORT: A female infant with severe congenital hypotrichosis had profus milia involving the entire face. The remainder of the physical examination was normal. The mother had normal skin and hair but indicated she had had the same signs as a child. The patient's condition regressed from the age of 10 to 15 years but she has undergone several surgical resections for basocellular carcinoma since the age of 20. The maternal grandfather had spontaneously regressive typical follicular atrophodermia involving the back and the hands and also had several milium grains and several basocellular carcinomas. He had never presented hypotrichosis. DISCUSSION: Oley syndrome is defined as an association of congenital hypotrichosis and milia spontaneously regressive during adolescence. The symptoms presented by our patient and her mother are similar to this genodermatosis. Concomitant hypotrichosis, milia, basocellular carcinomas and follicular atrophodermia define the Bazex-Dupré-Christol syndrome. The grandfather's condition would be closer to this syndrome than Oley syndrome despite the spontaneous regression of certain anomalies during adolescence. This family study would suggest that the Bazex-Dupré-Christol syndrome and the Oley syndrome are two variants of the same condition.

Adolescent↗
PubMed1998

[Familial juvenile macular dystrophy with congenital hypotrichosis capitis].

BACKGROUND: Our knowledge about the pathogenesis of hereditary macular diseases is still very circumscript. For genetic determination, a knowledge of the coincidence of eye symptoms and other defined common symptoms is helpful. The purpose of this paper was to present two sisters of a family of consanguineous parents with the combination of hypotrichosis of the head and macular dystrophy in the context of a tricho-ocular malformation of an ectodermal dysplasia. A review of the recent literature is included. PATIENTS AND METHODS: Two 13- and 17-year-old sisters presented at our hospital with reduced visual acuity because of symmetrical central changes of the retinal pigment epithelium and chorioatrophic scars according to macular dystrophy combined with hypotrichosis capitis. We performed fundus perimetry and histological examinations of the hair. RESULTS: The 13-year-old patient exhibited central changes of the retinal pigment epithelium leading to a relative central scotoma for Goldmann 1/4 during fundus perimetry in both eyes (visual acuity 0.125 and 0.4). We found central chorioatrophic scars, followed by absolute central scotomas, with unstable fixation in the upper retinal hemisphere in her 17-year-old sister with reduced visual acuity (0.16 and 0.2). CONCLUSION: There are few descriptions of the association of macular dystrophy and hypotrichosis. The combination of hypotrichosis and macular dystrophy could make genetical analysis easier. Mutational analysis of the TIMP-3 gene that has previously been associated with Sorsby fundus dystrophy did not reveal any disease-causing mutations in our patients.

Adolescent↗
PubMed2006

Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis.

The gene encoding human desmoglein 4 (DSG4) was recently cloned, and a mutation in this gene has been reported in several consanguineous Pakistani families affected with localized autosomal recessive hypotrichosis (LAH). In addition, various mutations in the Dsg4 gene have been identified in animal models of hypotrichosis that share a characteristic phenotype called "lanceolate hair". To date, the features of the hair-shaft anomaly in patients with LAH have not been well described. We report a Japanese patient affected with congenital hypotrichosis that was originally diagnosed as monilethrix because she had a hair-shaft abnormality that resembled moniliform hair. However, no mutations were found in the type II hair keratin genes, hHb1, hHb3, and hHb6, whose mutations cause monilethrix. Instead, we identified novel compound heterozygous mutations in the DSG4 gene of our patient. On the maternal allele is a novel S192P transition within the extracellular cadherin II domain of DSG4; on the paternal allele is a novel 2039insT mutation leading to the generation of unstable transcripts. Here we present the observation that mutations in the DSG4 gene can cause monilethrix-like congenital hypotrichosis. Based on our findings, we propose that LAH and monilethrix could overlap.

Alleles↗
PubMed2003

Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy.

Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by abnormal growth of scalp hair during infancy, and by the later occurrence of macular degeneration leading to blindness during the first to third decade of life. Hypotrichosis with juvenile macular dystrophy was recently shown to result from mutations in CDH3 encoding P-cadherin. In this study, we assessed 27 individuals, including nine patients, belonging to five families in an attempt to characterize further the CDH3 mutation spectrum and delineate possible phenotype-genotype correlations. Deleterious biallelic mutations, predicted to lead to the translation of a dysfunctional protein, were found in all affected individuals. Four of these mutations are novel. Affected individuals of two large separate apparently unrelated families of Arab Israeli origin were found to carry the same homozygous mis-sense mutation (R503H) in exon 11 of the CDH3 gene. This mutation, which alters a Ca2+-binding site in the fourth extracellular domain of P-cadherin, was previously described in a third unrelated Arab Israeli family. Using haplotype analysis for a series of polymorphic markers encompassing the CDH3 gene, we obtained evidence suggesting a founder effect for R503H in the Arab Israeli population. We also compared the dermatologic and ophthalmologic features of 22 hypotrichosis with juvenile macular dystrophy patients with known recessive mutations in CDH3. Whereas hair paucity and macular degeneration were found in all patients, we noticed significant interfamilial and intrafamilial differences in hair morphology, associated skin findings as well as severity and age of onset of visual disability. Altogether, our results obtained in a series of families of various ethnic origins firmly establish mutations in CDH3 as the proximal cause of hypotrichosis with juvenile macular dystrophy and demonstrate genetic homogeneity as well as phenotypic heterogeneity in this disorder.

Cadherins↗
PubMedDate not supplied

A sporadic case of congenital hypotrichosis simplex of the scalp: difficulties in diagnosis and classification.

Hereditary hypotrichosis simplex of the scalp is a genotrichosis characterized by a hair defect limited to the scalp in the absence of other ectodermal or systemic abnormalities. Only large pedigrees consistent with autosomal dominant transmission have been described to date. In this article the clinical and scanning electron microscopy findings of a nonfamilial case of congenital scalp hypotrichosis simplex are reported. In some patients the diagnosis of sporadic hypotrichosis simplex of the scalp should be considered after ruling out all other possible causes of congenital and hereditary hypotrichosis.

Child, Preschool↗
PubMedDate not supplied

Marie Unna hypotrichosis in a Chinese family.

Marie Unna hypotrichosis is a rare, autosomal dominant hypotrichosis characterized by sparse or absent hair at birth with regrowth of coarse, wiry hair from childhood, followed by progressive loss on approaching puberty. We report a Chinese mother and child seen at our skin center with features of Marie Unna hypotrichosis. The family pedigree showed two affected sisters and one affected brother, consistent with an autosomal dominant mode of inheritance. The clinical, genetic, histologic, and ultrastructural features were consistent with the diagnosis of Marie Unna hypotrichosis. This is the first Chinese family reported.

Adult↗
PubMed1994

[Follicular atrophoderma, basal cell proliferation and hypotrichosis (Bazex-Dupré-Christol syndrome). A study in 2 families].

We describe a new case of Bazex, Dupré and Christol (BDC) syndrome in a family (family B...) where the disease affects four generations. Moreover, we report the clinical and genealogical evolution of the first family (family A...), described in 1966 by Bazex. A review of the literature has enabled us to collect the various symptoms of BDC syndrome, to discuss the relationship of this syndrome with basal cell naevomatosis and X-linked dominant chondrodysplasia punctata, and to discuss the kind of heredity. In family B..., two patients were examined. A one-month-old girl, with hypotrichosis and pseudo pili torti, and her 29-year-old father, with hypotrichosis and dorsal follicular atrophoderma of the hands. In this family, the paternal grand mother, one of her sisters, and the great grand father were also affected, but no basal cell carcinomas were found. In family A..., five patients were followed up. Four brothers, adult men aged 43 to 55 years initially presented only dorsal follicular atrophoderma the hands and face, hypotrichosis and numerous basal cell carcinomas of the face, especially in palpebral, temporal, nasal and forehead sites. Surgery was required and gave better results than radiotherapy, which left sites of sclerosis. Their mother was also affected and had been treated for numerous basal cell carcinomas of the face. The other members of the same generation (two women, two men) were unaffected. But the uncle and the grand father had the disease and at the last generation, a girl, child of one of the brothers affected, presented follicular atrophoderma and hypotrichosis.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1991

Hereditary hypotrichosis of the scalp.

Hypotrichosis of the scalp was found in 4 individuals of a 6-generation Caucasian family. This congenital phenomenon is a rather rare subtype of hereditary hypotrichosis and affects only scalp hair. The hairs of the scalp were generally sparse and short vellus type from childhood and thinned progressively with age. Morphologic studies showed poor imbrication of cuticles and dysplastic bulbar structure of the anagen follicles. The density of hair follicles per/cm2 area was comparatively lower than that of normal individuals. The genealogical study and histomorphometrical findings of this autosomal dominant trait are discussed along with previously reported causes of hypotrichosis.

Adult↗
PubMed2000

An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family.

We report on a three-generation Italian family with dominant transmission of a form of hereditary hypotrichosis simplex (HHS). The nine affected adults presented with sparse, thin and short hair. Somewhat less sparse and longer hair was observed in the two affected young children in the third generation. Reduced hair growth affected the scalp and body, although normal eyelashes, eyebrows and growth of men's beards were observed. No associated abnormality was detected and the overall psychomotor development of the affected individuals was normal. A phenotypic variation was observed amongst the family members and is suggestive of a reduced penetrance of the trait or the effect of a modifying factor. After exclusion, in our family, of linkage to loci previously described in other forms of atrichia or hypotrichosis, we performed a genome-wide linkage analysis, which resulted in a positive lod score at 18p11.32-p11.23. We defined a critical region of about 35 cM flanked by markers D18S853 and D18S40. The highest two-point lod score was obtained with the microsatellite markers D18S1376, D18S53 and D18S453 (lod score of 3.31 at theta = 0.00). The 18p11.32-p11.23 locus represents the first chromosome region shown to be associated with hereditary hypotrichosis simplex.

Adult↗
PubMed2003

A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.

Hereditary hypotrichosis is a rare autosomal recessive condition characterized clinically by alopecia. Three consanguineous kindreds with multiple affected individuals were ascertained from different regions of Pakistan. A novel hypotrichosis locus was mapped to a 5.5 cM region on chromosome 18q21.1. A maximum two-point LOD score of 5.25 was obtained at marker D18S36 (theta=0.0). Three genes each for desmoglein and desmocollin proteins are located in this region. The expression in epidermal desmosomes and their connection to the keratin intermediate filaments make these genes excellent candidates for recessive hypotrichosis.

Chromosome Mapping↗
PubMedDate not supplied

Hereditary hypotrichosis simplex of the scalp.

Hereditary hypotrichosis simplex of the scalp is a genotrichosis characterized by sparse or absent scalp hair without structural defects, in the absence of other ectodermal or systemic abnormalities. We describe two Spanish families with hypotrichosis of the scalp. We believe these families have Toribio and Quiñones type hereditary hypotrichosis simplex of the scalp.

Adult↗
PubMed2005

Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings.

BACKGROUND: Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive disorder characterized by sparse and short scalp hair from birth, followed within a few years by progressive macular degeneration leading to blindness. HJMD was shown to result from mutations in CDH3 encoding P-cadherin. OBJECTIVES: In the present study, we attempted to identify the molecular basis of abnormal hair growth in two siblings of Arab Muslim origin with hypotrichosis but no visual symptoms. METHODS: Mutation analysis was performed using direct sequencing and polymerase chain reaction-restriction fragment length polymorphism analysis. RESULTS: Patients displayed sparse and short hair since birth. Significant macular degenerative pigmentary changes were noticed in the face of normal visual acuity. Despite the fact that a single CDH3 mutation had previously been described in several families of Israeli Arab Muslim origin, the two affected patients were found to be homozygous carriers of a novel nonsense mutation (Y615X) predicted to result in premature termination of P-cadherin translation. CONCLUSIONS: The present results indicate that all patients with congenital hypotrichosis should undergo thorough fundus examination, which, when revealing pigmentary macular changes, can be considered as indicative of an underlying CDH3 causative mutation.

Arabs↗