BACKGROUND: Congenital hypotrichosis is a non-specific, descriptive term for structural abnormalities of hairs showing variable clinical features. We recently have encountered a group of eleven patients exhibiting abnormal hairs showing similar patterns. OBJECTIVES: Our purpose was to clarify the entity of this structural hair disorder. METHODS: Dermatologic examination with routine histopathology, trichograms along with scanning electron-microscopic examination and laboratory studies were undertaken. RESULTS: All cases except one were female, and hair abnormalities had developed at birth or within a year. Diffuse distribution of thin, sparse, soft and hypopigmented hairs were noticed. On hair mounts, four patients showed tapering of roots. The majority of the patients exhibited cuticular changes, as well as pitting and longitudinal axial twisting by scanning electron-microscopic examination; one case demonstrated trichorrhexis nodosa, and another, trans-verse fracture. CONCLUSION: Although our cases bear some similar points with woolly hair, some differences were noted between this type of congenital hypotrichosis and other previously described syndromes.
Female ; Hair ; Humans ; Hypotrichosis* ; Parturition

We report a family suffering from Marie Unnas hypotrichosis (8 members affected in 4 generations). At birth they had normal hairs, subsequently loss of hair on the scalp, eyebrow and eyelash. At about 3rd years, coarse twisted scalp hair regrow until puberty when progressive loss from vertex and scalp margin was noticed. On physical examination and lsboratory studies, there was no associated abnormality in the patients. The scanning electron microscopic examination of the affected hair showed cuticular peeling and twisting or angulation of hair shaft.
Adolescent ; Eyebrows ; Hair ; Humans ; Hypotrichosis* ; Parturition ; Physical Examination ; Puberty ; Scalp

BACKGROUND: The incidence of hypotrichosis of pubis and atrichia pubis is relatively higher in oriental countries including Korea. OBJECTIVE: The aim of this study was to develop a treatment method to increase the density and to improve the distribution pattern of pubic hair in these patients. METHODS: Testosterone cream(5%) was applied to ten patients for six months. Then, the individual hair transplantation from the parietotemporal region of the scalp with the specially devised mini-punch was performed. Around the mons pubis, transplantation with 2-3mm punch was done. Postoperatively, the application of testosterone cream was done twice a day. RESULTS: Nine of ten patients were satisfied with the final results. Testosterone cream helped to increase the density of pubic hair. Transplanted hairs showed curling to some extent and did not grow like as it were at donor site. CONCLUSION: The advantage of this method is to make the appearance of pubic hairs more natural by controlling the direction and numbers of transplanting hairs at the time of operation and by making the hair denser with pre- and post-operative application of testosterone cream. The authors hope many dermatologic surgeons to use this new treatment approach for atrichia pubis and hypotrichosis of pubis.
Hair ; Hope ; Humans ; Hypotrichosis* ; Incidence ; Korea ; Scalp ; Testosterone* ; Tissue Donors

Basaloid follicular hamartoma is a benign adnexal tumor consisting of basaloid cells with follicular differentiation. It can present as a solitary lesion, multiple lesions, or an autosomal dominant inherited syndrome (basaloid follicular hamartoma syndrome). Basaloid follicular hamartoma syndrome is a rare adnexal tumor genodermatosis, which is characterized by autosomal dominant inheritance, histologically proven basaloid follicular hamartomas and associated findings including hypotrichosis, palmar/plantar pitting and hypohidrosis, etc. Herein, we report a case of 4-year-old girl with familial generalized basaloid follicular hamartoma syndrome.
Child, Preschool ; Female ; Hamartoma* ; Humans ; Hypohidrosis ; Hypotrichosis ; Wills

Twenty years old Korean male patient with Hallermann-Streiff syndrome who developed glaucoma is reported. The clinical features are dyscephalia with mandibulo-oculo-facial malformation, bilateral congenital cataract, dental anomalies, hypotrichosis, microphthalmia, nanism and the secondary complications. A brief review of literature is described.
Cataract ; Dwarfism ; Glaucoma ; Hallermann's Syndrome* ; Humans ; Hypotrichosis ; Male ; Microphthalmos

'Pubic atrichosis or hypotrichosis' is defined as the agenesis or the insufficient amount of pubic hair nevertheless the presence of other secondary sexual characteristics are normal. Such females may suffer from low self-esteem and psychological problem in addition to the aesthetic problem. In past, the treatment of atrichosis or hypotrichosis was done mainly with such medical therapeutics as hormonal drug therapy, but treatment tends toward the single hair transplantation in these days. Therefore, the importance of preoperative design have been emphasized to obtain more natural appearances and satisfactory results. We have studied for the pattern, hair line, distribution, density, direction, and angle to skin surface of pubic hair in 50 adult females. In pattern of pubic hair, the most common type was the horizontal type(64%) and the acuminate, the dispersed, the few type followed in order. But, the sagittal type was not observed. In the horizontal type, the upper border of line of pubic hair was located at 3/6-4/6(53%) or 4/6-5/6(47%) point of the distance from junctional point of both inguinal ligaments to the horizontal line passing both anterior superior iliac spines. In the acuminate type, most of them(75%) were located at 4/6-5/6 point of the distance from junctional point of both inguinal ligaments. In the horizontal and the acuminate type, the most lateral points of pubic hair were located, between right and left symmetrically, at 2/6-3/6 point of distance between both anterior superior iliac spines. The density of pubic hair at mons pubis, superior and lateral region of labium major didn't have no statistical difference and the central region had higher density than peripheral region. The direction of pubic hair was equal to Langer's line, angle of hair shaft to skin surface was about 60 degrees at central region and it was more acute angle at the peripheral region. In transplantation of pubic hair, it is important to know anatomical shape of pubic hair in normal adult female. If a surgeon considers the pattern, hair line, distribution, density, direction, and angle of hair shaft to skin in preoperative design and hair transplantation, one can obtain more natural-appearing and satisfactory results.
Adult* ; Drug Therapy ; Female* ; Hair* ; Humans ; Hypotrichosis ; Ligaments ; Skin ; Spine

We report a patient suffering from Marie Unna's hypotrichosis. A 24-year-old man presented with a progressive hair loss. Since puberty, he had experienced a loss of hair on the scalp, eyebrow and eyelash, and the hair was coarse and twisted. On physical examination and laboratory studies, there were no associated abnormalities in the patient. The scanning electron microscopic examination of the affected hair demonstrated cuticular peeling, and twisting or angulation of hair shaft, which showed the typical clinical manifestations of Marie Unna's hypotrichosis.
Adolescent ; Eyebrows ; Hair ; Humans ; Hypotrichosis* ; Physical Examination ; Puberty ; Scalp ; Young Adult

A case, 21 years old male, of Oculodentodigital dysplasia characterized with microphthalmia, micrccornea, parrot beak nose, dental anormalies, hypotrichosis and syndactyly. A brief review of literature is described.
Animals ; Beak ; Humans ; Hypotrichosis ; Male ; Microphthalmos ; Nose ; Parrots ; Syndactyly ; Young Adult

A Case, 17 yrs, old male, of Hallermann Streiff syndrome characterized by dyscephalia with bird face, dental anormalies, Nanism, hypotrichosis, atrophy of the skin, bilateral microphthalmos, and congenital cataracts has performed enucleation of left eye because of severe pain and aphakic glaucomatous ectasia at upper bulbar sclera of left eye. Histopathological and chromosomal study were made.
Atrophy ; Birds ; Cataract ; Dilatation, Pathologic ; Dwarfism ; Hallermann's Syndrome* ; Humans ; Hypotrichosis ; Male ; Microphthalmos ; Sclera ; Skin

OBJECTIVETo analyze clinical symptoms and disease-causing mutations of corneodesmosin (CDSN) gene in a Chinese family affected with hypotrichosis simplex of the scalp and to establish a method for prenatal diagnosis.

METHODSFamily survey and clinical examinations were carried out to determine the inheritance pattern. Three patients and 7 unaffected relatives from the family, in addition with 100 unrelated healthy controls were recruited. Genomic DNA from peripheral blood leukocytes was extracted. Five pairs of primers were designed based on the CDSN gene sequence. Exons and flanking regions of the CDSN gene were amplified using polymerase chain reaction (PCR). Potential mutations were analyzed through direct sequencing and comparison by BLAST.

RESULTSThe type of alopecia of the family was diagnosed as hypotrichosis simplex of the scalp with an autosomal dominant inheritance pattern. A nonsense mutation (C717G) in cDNA sequence of the CDSN gene was identified in all three patients of the family, which resulted in a premature stop codon (Y239X). The same mutation was not found among healthy members of the family and 100 healthy controls.

CONCLUSIONA Chinese family was diagnosed with hypotrichosis simplex of the scalp, which was caused by a novel nonsense mutation (Y239X) in the CDSN gene.

Alopecia ; genetics ; China ; Codon, Nonsense ; Female ; Glycoproteins ; genetics ; Humans ; Hypotrichosis ; genetics ; Male ; Middle Aged ; Pedigree ; Scalp