It has recently been shown that bi‐allelic mutations in the lanosterol synthase (LSS) gene, which was originally reported as a causative gene for congenital cataracts, underlie a non‐syndromic form of hypotrichosis. Furthermore, it has also been revealed that mutations in the LSS gene can cause syndromic forms of hypotrichosis. To date, however, clear genotype–phenotype correlations have not completely been characterized. In this study, we identified two Japanese patients who had severe congenital hypotrichosis without any other associated findings. Their scalp hairs were extremely short and thin, and were able to be plucked easily. Observation of the plucked hairs showed aberrantly‐miniaturized anagen hair follicles. Genetic analysis demonstrated that both patients carried bi‐allelic mutations in the LSS gene in a compound heterozygote state. Our findings further underscore the crucial roles of the LSS gene in hair follicle development and hair growth in humans.

Generalized pustular psoriasis (GPP) is the most severe form of psoriasis and is characterized by sudden onset of diffuse skin rushes with sterile pustule formation, high fever, high leukocyte count, and high levels of C reactive protein in the serum. 1,2 These episodic attacks can be induced by several distinct factors, such as pregnancy, infections, or medicines. It is known that psoriasis vulgaris (PV) can eventually progress to GPP.In recent years, the underlying genetic basis for GPP has gradually been disclosed. Firstly, Marrakchi et al. have reported that Tunisian patients with GPP carried bi-allelic loss-of-function mutations in IL36RN gene encoding interleukin (IL)-36 receptor antagonist, and thus, the disease caused by IL36RN gene mutations is also known as deficiency of interleukin 36 receptor antagonist (DITRA;Online Mendelian Inheritance in Man [OMIM] 614 204). 2 Mutations in the IL36RN gene have also been identified in Japanese patients with GPP, who tended to show an early onset and were not preceded by PV. 3 Soon after that, mono-allelic gain-of-function mutations in CARD14 gene have been reported to be a strong risk factor of GPP. 4 In the Japanese population, it has been demonstrated that a mono-allelic CARD14 gene variant c.526G>C (p.Asp176His) showed a significant association with GPP which progressed from PV. 5 Later on, mono-allelic loss-of-function mutations in AP1S3 gene have been identified in affected individuals with GPP (OMIM 616106). 6 Most recently, SERPINA3 and MPO have been reported as additional causative/susceptibility genes for GPP. [7][8][9] Of these, the MPO gene encodes myeloperoxidase (MPO) which is a lysosomal

With super aged society in Japan, the number of accidents stemming from blockage of the oropharyngeal airway has increased. It is thought that this increase may be related to changes in the oropharynx with aging and hence the rate of such accidents is expected to continue to increase in future. Accidents caused by blockage of the oropharynx airway are frequent among the very young and the very old. During early childhood, oral morphology and feeding and swallowing functions are still undeveloped and functional changes take place as the child develops. 1,2) In individuals older than 65 years, drooping of the larynx and a dry mouth are common changes associated with aging, and these are also thought to be responsible for most oropharyngeal airway block age accidents. 3 8) The shape and function of the oropharyngeal crossing with the respiratory tract have a strong influence on the passage of food as it moves from the oral cavity to the pharynx and into the esophagus. The oropharyngeal airway plays an important role in feeding and swallowing. We examined the characteristics and physical changes of the oropharyngeal airway from the teenagers to those in their 70s. Changes to the oropharynx airway volume in children are known to

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