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Histopathological diagnosis of scalp biopsies remains a challenging area in dermatopathology. Published studies have described the benefits of different sectioning techniques although the application of these techniques is still under clinical investigation. To review published literature and evaluate the value of horizontal sections compared to vertical sections in the diagnosis of alopecia. Databases, such as PubMed and EMBASE, among others, were searched for published articles; to identify additional relevant studies, the literature search was performed manually. The total number of cases and diagnosed cases, and diagnostic rates, were extracted from each included study. Pooled diagnostic rates with 95% confidence intervals (CI) were used to evaluate the value of different sectioning techniques, and we tested for publication bias and heterogeneity. Most studies had a suboptimal design. With regards to non-scarring alopecia, there were eight horizontal and eight vertical section studies. The pooled diagnostic rates were 0.81 (95% CI: 0.70-0.92) and 0.76 (95% CI: 0.60-0.93), respectively, and extensive heterogeneity existed among these studies. For the diagnosis of scarring alopecia, there were three horizontal and five vertical sectioning studies. The pooled diagnostic rates were 0.86 (95% CI: 0.66-1) and 0.90 (95% CI: 0.82-0.98), respectively, and heterogeneity was also observed. Based on published studies, no significant difference exists between horizontal and vertical sectioning techniques in the diagnosis of alopecia. Whereas most studies had a suboptimal design, future studies in this area would benefit from a scientific approach and standardised measurements to explore the value of horizontal and vertical sectioning.

Background: Whereas several studies have underlined the association between severe psoriasis and metabolic syndrome (MetS), the association of androgenetic alopecia (AGA) and MetS have yielded inconsistent results., Objective: To investigate the relationship between AGA and the components of MetS in a population of psoriatic male patients., Methods: A non-interventional, cross-sectional, multicenter study was conducted in France. A standardized questionnaire was completed, including information on components of MetS and other possible risk factors. MetS was defined in this study as a combination of three or more of the four components of MetS: waist circumference, hyperlipidemia, diabetes mellitus and hypertension. In addition, a standardized simplified Norwood classification limited into 5 grades (0-4) was used., Results: In a total of 1073 male patients, hypertension, high waist circumference, diabetes mellitus and hyperlipidemia were observed in 28%, 59%, 11%, and 31%, respectively. In age-adjusted multivariate analysis, severe AGA (grade 3-4 versus grade 0) was associated with the presence of at least one component of MetS. By groups of age, a statistically significant association of severe AGA and MetS was demonstrated in patients over 59 years. Severe AGA was also associated with a first degree familial history of major cardiovascular event in patients older than 59 years., Conclusions: Our study, based on a simplified but stringent definition of MetS, confirmed the link between severe AGA and individual components of MetS in psoriatic patients. This argues for careful follow-up with regular screening in male psoriatic patients with severe AGA in order to early detect determinants of MetS.

Background: Ichthyosis Follicularis, Atrichia and Photophobia (IFAP) syndrome is a rare genodermatosis due to mutations of the MBTPS2 gene. To date fewer than 40 cases have been described in the literature., Objectives: To present the first case of IFAP diagnosed in Poland due to a novel mutation of MBTPS2, and to review the relevant literature on this rare genodermatosis., Materials & Methods: A 16-year-old male presented with typical clinical features of IFAP, along with psoriasiform skin plaques, nail dystrophy, facial dysmorphy, mental retardation, severe skeletal abnormalities and chorea-like movements. DNA analysis was performed in the patient and his clinically unaffected mother, maternal grandmother and sisters., Results: A novel missense mutation p.Cys334Tyr (c.1001G>A) was found in exon 8 of the MBTPS2 gene. This mutation was also found in his clinically unaffected mother and maternal grandmother, but not his healthy sisters., Conclusions: This patient with IFAP, the first described from Poland, is original by virtue of its extensive skeletal, cutaneous and neurologic manifestations and the novel missense mutation of the MBPTS2 gene. The identification of a novel mutation further expands the known MBPTS2 molecular repertoire and the spectrum of associated clinical findings.

A 20-year-old male developed early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction caused by atrophy and fatty replacement of the pancreas. At 5 months of age, he initially presented at the hospital with numerous blisters on his extremities, inguinal and genital area. A biopsy specimen from a vesicular lesion showed a subepidermal bulla. Electron microscopic examinations of a vesicular lesion revealed vacuolar changes of the basal cells without hemidesmosomes. Subsequently, the blisters gradually resolved and healed without scars. At the age of 11, he was admitted for the treatment of cellulitis on his foot and at that time, laboratory examinations detected a decreased level of pancreatic enzymes due to exocrine pancreatic hypofunction. Abdominal ultrasonography and computed tomography (CT) showed the pancreas to be atrophic with fatty replacement. A genetic analysis revealed no mutation in his RECQL4 gene, which is responsible for the pathogenesis of Rothmund-Thomson syndrome (RTS). Although marked blister formation and exocrine pancreatic hypofunction are unusual complications of RTS, this case showed many typical clinical features of RTS. Therefore, this case was considered to be a peculiar variant of RTS.

Androgenetic alopecia is considered to be associated with coronary heart disease but the explanation of this association remains unknown. Hypertension is highly prevalent in patients with coronary heart disease. Essential hypertension is linked to hyperaldosteronism and spironolactone, an antihypertensive drug which is a mineralocorticoid receptor antagonist, has been used for a long time in the treatment of androgenic alopecia. We recently observed in a double transgenic mouse model that overexpression of a mineralocorticoid receptor targeted to the skin induced the development of alopecia. We prospectively studied the association of hypertension and androgenetic alopecia in Caucasian men. Two hundred and fifty Caucasian men aged 35-65 years were consecutively recruited by 5 general practitioners (50 per practitioner). Data collected included age, androgenetic alopecia score with a simplified Norwood's score (0-4), blood pressure or history of hypertension, smoking, history of diabetes mellitus or hyperlipidemia, familial history of androgenetic alopecia, and treatment. Chi-square, Fisher exact tests and linear regression model were used for statistical analysis. Hypertension was strongly associated to androgenetic alopecia (p < 0.001). Linear regression tests confirmed that this association was independent of age : odds ratio was 2.195 (95% CI : 1.1-4.3). Familial history of androgenetic alopecia was also strongly associated with androgenetic alopecia : odds ratio was 10.870 (95% CI : 4.3-27.1). Other variables (diabetes mellitus, hyperlipidemia, smoking, treatment) were not associated with androgenetic alopecia. We were limited by a relatively small study sample but in this study androgenetic alopecia was strongly associated with hypertension. Association of androgenetic alopecia and hyperaldosteronism warrants additional studies. The use of specific mineralocorticoid receptor antagonists could be of interest in the treatment of androgenetic alopecia.

Atrichia with Papular Lesions (APL) is a rare autosomal recessive disorder characterized by complete hair loss that begins shortly after birth with the development of papular lesions on various regions of the body. Since the establishment of hairless (HR) gene mutations as the cause of this disorder, several patients previously assumed to suffer from alopecia universalis have been subsequently diagnosed with APL. In this study we have identified a novel splicing mutation, IVS8+2T-->G, in the hairless gene. This mutation most likely abolishes normal splicing of exon 8 and potentially leads to out-of-frame skipping of this exon and a downstream premature termination codon (PTC). Our findings contribute to the growing body of HR mutations implicated in APL and provide further evidence for the differentiation of APL from alopecia universalis.