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Xanthoerythrodermia perstans and alopecia mucinosa in a patient with CD-30 cutaneous T-cell lymphoma.

Xanthoerythrodermia perstans (XEP) is a distinctive variant of large-plaque parapsoriasis. Along with alopecia mucinosa and lymphomatoid papulosis, there is a strong association between large-plaque parapsoriasis and evolving cutaneous T-cell lymphoma (CTCL). In some reports, large-plaque parapsoriasis was suggested to be a precursor lesion that converted to CTCL in 10 to 30 percent of cases. We describe a patient who presented clinically with both XEP and alopecia mucinosa and was subsequently shown to have CD-30 CTCL.

Adult↗

Androgenetic alopecia: in vivo models.

Androgenetic alopecia is the most common form of balding in humans. There is great interest in finding a reliable animal model to study the pathogenesis and treatment of this abnormality. The sump-tailed macaque (Macaca artoides) has been the standard model and appears to be useful homologue. These primates are reasonably good predictors of compound efficacy. Due to reduced size and expense, rodent models have been sought. Testosterone inducible models require more development but offer potential. Xenografts of human skin to immunodeficient mice, notably nude or severe combined immunodeficiency, are small, relatively inexpensive, and easy to work with if a source of human tissue is available. Xenografts to double mutant mice for severe combined immunodeficiency and a number of hormone receptor null mutations offer new refinements to these xenograft models.

Alopecia↗

Investigation of ACE gene polymorphism and serum ACE activity in relation to alopecia areata among Iraqi patients.

BACKGROUND: Alopecia areata (AA) is a multifactorial disorder with immune dysregulation and genetic susceptibility, affecting 0.5-2% globally. OBJECTIVE: This study investigated angiotensin converting enzyme (ACE) gene insertion /deletion (I/D) polymorphism and serum ACE activity in Iraqi AA patients and their association with inflammatory cytokines (interleukin [IL]-17) and nutritional markers to understand disease progression. METHODS: This case-control study included 50 AA patients (Male and Female) and 35 healthy controls. ACE gene polymorphism (rs1799752) was analyzed using real-time polymerase chain reaction (qPCR) with high-resolution melting (HRM) analysis. Serum IL-17 levels were determined by enzyme-linked immunosorbent assay (ELISA), and biochemical markers were measured using an automated analyzer. RESULTS: ACE gene polymorphism (rs1799752) showed non-significant genotype distribution between patient and control groups (p&#xa0;>&#xa0;0.05), though a trend toward DD genotype enrichment was observed in patients. Serum ACE levels were significantly higher in patients versus controls (p&#xa0;<&#xa0;0.0001) with high diagnostic performance. ACE correlated positively with IL-17 (P&#xa0;<&#xa0;0.0001) and negatively with vitamin D3 and zinc (P&#xa0;<&#xa0;0.0001). Female patients had significantly higher ACE levels than males (P&#xa0;<&#xa0;0.01). CONCLUSIONS: ACE emerges as an immunometabolic hub in AA pathogenesis, integrating inflammation with nutritional deficits, suggesting its potential as a biomarker and therapeutic target.

Humans↗

Use of finasteride in the treatment of men with androgenetic alopecia (male pattern hair loss).

Finasteride, a type 2-selective 5alpha-reductase inhibitor, was approved in 1997 as the first oral pharmacologic therapy for the treatment of men with androgenetic alopecia (AGA; male pattern hair loss). Originally developed for the treatment of men with benign prostatic hyperplasia (BPH) at a dose of 5 mg/day, finasteride has a well-established, excellent safety profile. Subsequent studies demonstrated that finasteride was an effective treatment for men with AGA at an optimal dose of 1 mg/day. This report summarizes the published peer-reviewed literature on the use of finasteride in the treatment of men with AGA, including the data on long-term (5 years) use of finasteride in a placebo-controlled clinical trial environment.

Alopecia↗

Life events and alopecia areata.

48 patients with alopecia areata, 30 with common baldness, 30 with fungal infections underwent the Paykel's Interview for recent life events. In the 6 months preceding onset, alopecic patients reported 123 events (mean = 2.56), patients with common baldness 22 events (mean = 0.73), patients with fungal infections 15 (mean = 0.50) (p less than 0.001). Events with negative impact, exits from social fields, uncontrolled events and socially desirable and undesirable events were significantly more frequent in alopecic patients than in controls.

Adult↗

Diagnosing the common alopecias.

Ample scalp biopsies, including subcutaneous fat, are easily obtained by excision or punch biopsy. Using a knowledge of normal hair patterns and histologic features, the physician can identify common baldness, trichotillomania, alopecia areata, discoid lupus erythematosus, lichen planopilaris, tinea capitis and follicular mucinosis. While hair loss is usually of more psychologic than physiologic significance, accurate diagnosis can be of great importance.

Alopecia↗

Testosterone metabolism in the skin. A review of its function in androgenetic alopecia, acne vulgaris, and idiopathic hirsutism including recent studies with antiandrogens.

Current concepts of testosterone metabolism in the human skin are reviewed, and the role of dihydrotestosterone in the pathophysiology of androgenetic alopecia, acne vulgaris, and idiopathic hirsutism is discussed. The hypothesis is submitted that a temporary, increased dihydrotestosterone formation at specific skin target sites at different ages causes the normal development of certain sexual characteristics, as well as the androgen-dependent skin disorders. Future treatment of these conditions is discussed in light of recent studies with antiandrogens.

Acne Vulgaris↗

Female androgenic alopecia. The 3 alpha,17 beta-androstanediol glucuronide/sex hormone binding globulin ratio as a possible marker for female pattern baldness.

Twenty-five women fulfilling the criteria for female alopecia, of either the male pattern baldness type or female pattern baldness type, were evaluated for hormone markers to delineate the clinical baldness patterns. Women with a marked increase in the 3 alpha,17 beta-androstanediol glucuronide/sex hormone binding globulin ratio and low serum sex hormone binding globulin were noted to have female pattern baldness. This pattern of baldness may represent hair loss from the influence of minimal androgen excess on genetically sensitive hair bulbs in the absence of other signs of maximal androgen excess, including hirsutism, acne, or virilism.

Adult↗

A nationwide outbreak of alopecia associated with the use of a hair-relaxing formulation.

OBJECTIVE: To study the long-term outcome of adverse effects reported by persons who used a commercial hair-straightening product known as the Rio Hair Naturalizer System (World Rio Corporation). DESIGN: Survey of individuals who contacted the Food and Drug Administration in 1994 and 1995 to report adverse effects linked to using the product. SETTING: Persons residing in the United States. PATIENTS: A total of 464 (59% of 790 eligible) patients who returned a completed questionnaire. MAIN OUTCOME MEASURES: Adverse effects associated with using the Rio Hair Naturalizer System products (neutral or color enhancer). RESULTS: Ninety percent of respondents were African American women between the ages of 15 and 55 years. The most common complaints associated with the use of the products were hair breakage and/or hair loss, reported by 95% of respondents. Three quarters of those experiencing hair loss reported losing 40% or more of their original hair. The median time between the loss of original hair and the growth of new hair was 8 months; however, 40 (9%) respondents reported having no new growth at the time of completing the survey, some 2 years after using the product. When mixed according to package instructions, the mean pH of a sample of 20 neutral product kits tested was 1.39 (range, 1.1-3.15). For the 21 color-enhancer products tested, the mean pH was 2.82 (range, 2. 29-3.08). CONCLUSIONS: A nationwide outbreak of alopecia and scalp injuries involving tens of thousands of women (and some men) occurred following the marketing of a chemical hair-relaxing product. Most of those affected reported substantial hair loss, with a majority indicating growth of new hair that was abnormal in both quantity and quality.

Adolescent↗

Distinguishing androgenetic alopecia from chronic telogen effluvium when associated in the same patient: a simple noninvasive method.

BACKGROUND: Distinguishing chronic telogen effluvium (CTE) from androgenetic alopecia (AGA) may be difficult especially when associated in the same patient. OBSERVATIONS: One hundred consecutive patients with hair loss who were clinically diagnosed as having CTE, AGA, AGA + CTE, or remitting CTE. Patients washed their hair in the sink in a standardized way. All shed hairs were counted and divided "blindly" into 5 cm or longer, intermediate length (>3 to <5 cm), and 3 cm or shorter. The latter were considered telogen vellus hairs, and patients having at least 10% of them were classified as having AGA. We assumed that patients shedding 200 hairs or more had CTE. The kappa statistic revealed, however, that the best concordance between clinical and numerical diagnosis (kappa = 0.527) was obtained by setting the cutoff shedding value at 100 hairs or more. Of the 100 patients, 18 with 10% or more of hairs that were 3 cm or shorter and who shed fewer than 100 hairs were diagnosed as having AGA; 34 with fewer than 10% of hairs that were 3 cm or shorter and who shed at least 100 hairs were diagnosed as having CTE; 34 with 10% or more of hairs that were 3 cm or shorter and who shed at least 100 hairs were diagnosed as having AGA + CTE; and 14 with fewer than 10% of hairs that were 3 cm or shorter and who shed fewer than 100 hairs were diagnosed as having CTE in remission. CONCLUSION: This method is simple, noninvasive, and suitable for office evaluation.

Adult↗

Epistasis of ERAP1 With 4 Major Histocompatibility Complex Class I Alleles in Frontal Fibrosing Alopecia: A Genome-Wide Association Study Meta-Analysis.

IMPORTANCE: Frontal fibrosing alopecia (FFA) is an inflammatory and scarring form of hair loss of increasing prevalence that most commonly affects women. An improved understanding of the genetic basis of FFA will support the identification of pathogenic mechanisms and therapeutic targets. OBJECTIVE: To identify novel genomic loci at which common genetic variation affects FFA susceptibility and assess nonadditive effects on genetic risk between susceptibility loci. DESIGN, SETTING, AND PARTICIPANTS: Four genome-wide association studies were combined using an SE-weighted meta-analysis. Within the major histocompatibility complex (MHC) locus, stepwise conditional analysis was undertaken to determine independently associated classical MHC class I alleles. Statistical tests for epistatic interaction were performed between risk alleles at the MHC and endoplasmic reticulum aminopeptidase 1 (ERAP1) loci. MAIN OUTCOMES AND MEASURES: Genome-wide significant locus associated with FFA and nonadditive effects on genetic risk between susceptibility loci. RESULTS: Of 6668 included patients, there were 1585 European female individuals with FFA and 5083 controls. Genome-wide significant associations were identified at 4 genomic loci, including a novel susceptibility locus at 5q15, and the association signal could be fine-mapped to a single nucleotide substitution (rs10045403) in the 5' untranslated region of ERAP1 (rs10045403; odds ratio, 1.30; 95% CI, 1.19-1.43; P&#x2009;=&#x2009;3.6&#x2009;&#xd7;&#x2009;10-8). Within the MHC, FFA risk was statistically independently associated with HLA-A*11:01, HLA-A*33:01, HLA-B*07:02, and HLA-B*35:01. FFA risk was affected by genetic variation at the ERAP1 locus only in individuals who carried at least 1 of the MHC class I risk alleles. CONCLUSIONS AND RELEVANCE: In this genome-wide meta-analysis, a supra-additive effect of genetic variation was found that affected peptide trimming and antigen presentation on FFA susceptibility. Patients with FFA may benefit from emerging therapeutic approaches that modulate ERAP-mediated processes.

Female↗

A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism.

We describe a large, three generation kindred in which 16 individuals were affected with alopecia, hyposmia or anosmia, conductive deafness associated with protruding ears, microtia, and/or atresia of the external auditory canal, hypogonadotropic hypogonadism due to LH/FSH deficiency, and a greater than normal tendency to dental caries. Variable manifestations include mild facial asymmetry, mental retardation, congenital heart defect, and cleft palate. This seems to be a previously undescribed pleiotropic autosomal dominant trait with variable expressivity. The manifestations can be explained on the basis of involvement of the ectoderm and neuroectoderm of the first and second branchial arches, of Rathke's pouch, and of the diencephalon.

Abnormalities, Multiple↗

Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature.

The GAPO syndrome is a rare but distinct autosomal-recessive disorder. The term GAPO is an acronym for the manifestations of Growth retardation. Alopecia, Pseudo- anodontia (failure of tooth eruption), and progressive Optic atrophy. We are aware of five other published patients. All have a strikingly similar appearance. This, along with other distinct manifestations, should allow clear differentiation from other causes of growth retardation. The hypothesis of autosomal-recessive inheritance is based on parental consanguinity and affected sibs in several cases.

Alopecia↗

Primary hypogonadism and partial alopecia in three sibs with müllerian hypoplasia in the affected females.

We describe 3 sibs, two females and a male, with hypogonadism, defective Müllerian development in the sisters, and partial alopecia consisting of cranial hair only in the center of the scalp. One sister had absent gonads, the other had streak ovaries; both had markedly hypoplastic internal genitalia. Their brother had hormonal and histologic findings consistent with germinal cell aplasia. In view of the fact that the parents were consanguineous, autosomal recessive inheritance of the syndrome is likely.

Adolescent↗

Cataracts, alopecia, and sclerodactyly: a previously apparently undescribed ectodermal dysplasia syndrome on the island of Rodrigues.

An unique autosomal recessive ectodermal dysplasia is present in 5 sibs from the Indian Ocean island of Rodrigues. The main manifestations are total congenital alopecia, bilateral congenital cataracts, and skin changes of the hands and feet including sclerodactyly, hyperkeratosis, contractures, and pseudoainhum formation. The phenotype differs from that of other genetic ectodermal dysplasias and independent syndromic status is probable.

Abnormalities, Multiple↗