Cytokeratin expression in pili annulati hair follicles.

Pili annulati is a rare autosomal inherited hair shaft abnormality of unknown pathogenesis in which clinical examination reveals alternating light and dark bands leading to a shiny appearance of the hair due to cavities within the cortex of the hair shaft. This is the first investigation of the proposed cytokeratin defect in pili annulati hair follicles. Four cryopreserved pili annulati and four control scalp specimens were analysed using immunohistochemistry for different 'hard' trichocytic and 'soft' epithelial cytokeratins including K1, K6, K10, K14, K16, K17, K18, K19, Ha1 and Hb1. There was no difference in staining intensity and quality of staining pattern seen in pili annulati and control scalp specimens. These results suggest that pili annulati is not caused by a defect of the cytokeratins investigated in this study.

Apparent fragility of African hair is unrelated to the cystine-rich protein distribution: a cytochemical electron microscopic study.

A feature of black African hair is an apparent increased fragility of the hair shaft compared to other ethnic groups (as measured by the tensile force needed to break the hair fibre). This has certain similarities to that reported for trichorrhexis nodosa (weathering secondary to physical damage) and trichothiodystrophy [a genetic disorder associated with reduced cystine (sulphur)-rich proteins and increased fragility]. In the present study, the distribution of the cystine-rich proteins in the hair of black Africans was compared to that of Caucasian and Asian volunteers, plus patients with trichorrhexis nodosa and trichothiodystrophy, using transmission electron microscopy and specific silver stains. It was found that the silver staining pattern of the hair shafts of black Africans was similar to that observed for Caucasians, Asians and also patients with trichorrhexis nodosa. The cuticular cells exhibited an electron dense A layer and exocuticle, and in the cortex the microfibrils forming the macrofibres were outlined by electron-dense material. This contrasts with the abnormal distribution of the cystine-rich proteins seen in trichothiodystrophy. This study is the first formal comparison of the cystine-rich proteins in the various racial groups and shows that there is no abnormality in their distribution in black African hair shafts compared to the other ethnic groups. Therefore, the excessive structural damage observed in the African hair shafts is consistent with physical trauma (resulting from grooming) rather than an inherent weakness due to any structural abnormality.

Update on detection, morphology and fragility in pili annulati in three kindreds.

BACKGROUND: Pili annulati is an inherited hair shaft abnormality with a wide range of clinical expression. OBJECTIVE: We have examined closely three kindreds to reveal levels and character of expression of the phenotype and supplement current literature on the threshold for detection and aspects of hair shaft fragility. PATIENTS AND METHODS: Eleven cases of pili annulati from three families were included in a clinical and morphological study. All cases were assessed clinically and by light and scanning electron microscopy (SEM) of hair shafts. In addition, transmission electron microscopy (TEM) (four patients) and amino acid analysis (three patients) were undertaken on clinically overt cases. Results Examination by light microscopy with a fluid mountant was more sensitive than clinical examination, increasing the detection rate by 120%. Microscopic examination revealed that the characteristic periodic bands become less frequent distally in the hair shaft. Microscopic features of weathering were found in two cases, adding pili annulati to the list of structural hair shaft dystrophies that may weaken hair and dispose to weathering. Amino acid analysis of the hair of three patients with pili annulati showed elevated lysine and decreased cystine content compared to 12 normal controls, consistent with the reduced threshold for weathering. CONCLUSION: Careful light microscopy with fluid-mounted hair is needed to detect subjects mildly affected by pili annulati. Expression of the phenotype varies widely between individuals, between hairs and within hairs of the same individual, where ageing of the hair diminishes detectable features.

Alterations in the basement membrane zone in pili annulati hair follicles as demonstrated by electron microscopy and immunohistochemistry.

BACKGROUND: Pili annulati is a rare autosomal dominant inherited hair shaft abnormality in which clinical examination reveals alternating light and dark bands leading to a shiny appearance of the hair. The clinically light bands are the abnormal areas due to cavities within the cortex. The pathogenesis remains unknown. OBJECTIVES: To investigate the expression of the basement membrane zone (BMZ) components in pili annulati hair follicles of the scalp. METHODS: Transmission electron microscopy (TEM) was carried out on scalp sections of six individuals with pili annulati and six controls. Longitudinal sections of scalp tissues from four individuals with pili annulati and six normal controls were studied by immunohistochemistry with a panel of monoclonal antibodies to the following BMZ components: alpha(6)beta(4) integrin, laminin 5, LH39 antigen, laminin 1, collagen IV and collagen VII. RESULTS: Using TEM, pili annulati scalp specimens exhibited a reduplicated lamina densa in the region of the root bulb in comparison with the single thin electron-dense band in controls. Using immunohistochemistry, there was a wavy BMZ in pili annulati follicles with antibodies to components of the lamina lucida, lamina densa and anchoring fibrils, whereas the BMZ in control hair follicles was as a smooth linear band. The expression of the hemidesmosome-associated alpha(6)beta(4) integrin was linear in both pili annulati and control hair follicles. CONCLUSIONS: Our results suggest that the genetic defect may be a mutation in proteins involved in signalling and regulation of formation and degradation of the lamina densa and sublamina densa region resulting in abnormal assembly or remodelling of the BMZ.

Hypertrichosis in females applying minoxidil topical solution and in normal controls.

BACKGROUND: Hypertrichosis has been reported more frequently in females than in males who use minoxidil topical solution (MTS) for the treatment of androgenetic alopecia (AGA). This article examines the occurrence of MTS-induced hypertrichosis in females. METHODS: Data from placebo-controlled clinical trials in females (up to 5% MTS) were analysed based on spontaneous reports of hypertrichosis/facial hair and investigators' inquiries (solicited) about the presence of any new hair growth on body parts other than the scalp. A postmarketing drug surveillance database for MTS was also examined for reports of hypertrichosis/facial hair. RESULTS: In the clinical trials involving a total of 1333 females, spontaneous reports of hypertrichosis/facial hair were noted for 50 (4%) females in a dose-related pattern of response (5% MTS > 2% MTS > placebo). Nine females (seven and two in the 5% MTS and 2% MTS groups, respectively) discontinued treatment because of hypertrichosis/facial hair. Solicited reports of excessive hair growth (primarily facial) also showed a dose-related pattern of response. Post-marketing data showed a lower occurrence (0.5%) of hypertrichosis/facial hair than in the clinical trials. Of interest, in one clinical trial, 27% of the females enrolled (MTS and placebo treated) had facial hair growth reported at baseline. CONCLUSIONS: Females with some hirsutism are particularly prone to seek treatment for AGA, and this may explain the high occurrence of hypertrichosis/facial hair found in the MTS clinical trials. Furthermore, some demographic groups of females are prone to develop facial hair and the problem of unwanted facial hair growth seems to be underestimated. Some females may have hair follicles that are very sensitive to MTS and should use the lowest strength of MTS (2%) to help avoid unwanted hair growth. The hypertrichotic effect of MTS on other sites than the scalp, including the face, is reversible and does not always require discontinuation of therapy.

Three cases of androgen-dependent disease associated with myotonic dystrophy.

Three cases of androgen-dependent disease in females with myotonic dystrophy are described. Serum androgens in individuals affected by myotonic dystrophy are known to be lower on average than in normal controls. Despite this these three females developed diseases that are androgen dependent, including acne, hidradenitis suppurativa, androgenetic alopecia and keratosis pilaris. These cases support the hypothesis that the peripheral response to androgens rather than absolute circulating levels of androgens is important in androgen-dependent conditions.

Hirsuties.

Hirsuties is an androgen-dependent differentiation and growth of hair in females in the same pattern and sequence as that which develops in the normal postpubertal male, but of less quantity and varying in severity. The clinical diagnosis implies underlying pathology and necessitates systematic consideration. The assessment must be adequate to distinguish between causes that are "dangerous" and those that are relatively trivial to life and health, and to determine whether the condition has consequences for well-being over the short term or may incur some significant health risks over the long term. The physiologic mechanisms for androgenic activity may be considered in three stages: (1) the production of androgens by the ovaries and adrenal glands; (2) their transport in the blood on carrier proteins, principally SHBG (sex hormone-binding globulin); and (3) their intracellular modification and binding to the androgen receptor. Causes may include polycystic ovary syndrome, congenital adrenal hyperplasia, androgen-secreting tumors, Cushing's syndrome, hyperprolactinemia, and menopause. There is a genuine need for accurate anthropologic and racial data in relation to female hair patterns.

Keratosis pilaris atrophicans in mother and daughter.

We report two cases of keratosis follicularis spinulosa decalvans in a Caucasian family involving a 28-year-old woman and her mother. This is an unusual family in that no male relatives are similarly affected. Secondly, both patients have no significant eye changes but quite extensive scarring alopecia. To the best of our knowledge this is the second reported family in the UK.