Chao-Kai Hsu

Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations

Background  Mutations in the gene encoding filaggrin (FLG) were identified to underlie ichthyosis vulgaris (IV) and also shown to predispose to atopic eczema. Until now, no FLG mutations have been described in the Taiwanese population.

Incontinentia pigmenti in a father and daughter

DEAR EDITOR, Incontinentia pigmenti (IP) is a rare multisystem X-linked dominant genetic disorder caused by mutations in IKBKG, encoding inhibitor of nuclear factor kappa-B kinase subunit gamma (IKK-c). Functionally, the encoded IKK-c protein participates in nuclear factor (NF)-jB signalling to regulate inflammatory and immune responses and prevent apoptosis. Loss-of-function mutations in IKBKG, such as those that occur in IP, leave mutant cells vulnerable to apoptosis when exposed to tumour necrosis factor-a. Female patients with IP who inherit germline mutations in IKBKG usually survive because of skewed X-inactivation favouring expression of the wild-type allele, whereas most male patients with IP die in utero. However, possible explanations for rare examples of the survival of male patients with IP include Klinefelter syndrome (47XXY), hypomorphic IKBKG mutations and postzygotic mutations in IKBKG leading to somatic mosaicism. Here, we describe a male adult with IP, with survival being attributed to tissue mosaicism, who then fathered a female child with IP affecting her germline. A 29-year-old Kuwaiti man was born with severe linear blistering followed by hyperpigmentation and hyperkeratotic plaques in a Blaschkoid distribution on the head, trunk, upper and lower limbs (Fig. 1a, b). He had linear facial asymmetry and blindness of the left eye. His dentition was abnormal, necessitating dentures. The rest of his neurological examination was unremarkable. His 1-year-old daughter was born at term via normal vaginal delivery. There was no history of consanguinity in the family. Soon after birth she had linear, streaky erythema and vesicles, with subsequent hyperpigmentation and hyperkeratotic plaques; lesions were noted on the upper and lower limbs along lines of Blaschko (Fig. 1c). Other systemic abnormalities were excluded on clinical examination and developmental parameters were normal. No neurological abnormalities have been noted during her first 12 months. Following informed consent, a three-primer polymerase chain reaction (PCR) protocol was used to screen for the most common recurrent pathogenic mutation in IKBKG that underlies ~80% of IP cases worldwide. This mutation is an intragenic deletion from within intron 3 to within intron 10 that removes all of exons 4–10. Such a PCR protocol is necessary because of a nonfunctional copy of IKBKG running in the opposite direction. We used a recently reported method that

Filaggrin: An Emerging Star in Atopic March

429 Atopic dermatitis (AD) is a common chronic inflammatory skin disease characterized by itching and inflamed skin, showing from infancy and early childhood.1 It affects up to 20% of children with increasing prevalence in highly industrialized countries.1 Until recently, most pathophysiological concepts of AD have been attributed to immune system abnormalities, including Th1/ Th2 imbalance and IgE-mediated sensitization.1 However, there is growing evidence to show that heritable skin barrier defects caused by mutations in the human profilaggrin gene (FLG) play an important role in AD.2

Inflammatory facial acne during uncomplicated pregnancy and post-partum in adult women: a preliminary hospital-based prospective observational study of 35 cases from Taiwan

Pregnancy is associated with significant changes in hormones and metabolism which can also exert impact on the skin.

Further evidence for genotype-phenotype disparity in Griscelli syndrome

First described in 1978, Griscelli syndrome (GS) is a rare autosomal recessive disorder featuring pigmentary dilution of hair and skin.1 GS is caused by mutations in any of three genes encoding a tripartite protein complex essential for melanosome transport.2 GS1 (MIM214450) presents as hypomelanosis with primary neurological defects and is caused by mutations in MYO5A,3 and which also may be the same entity as Elejalde syndrome (MIM256710).4 This article is protected by copyright. All rights reserved.

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45

SPG45 is a rare form of autosomal recessive spastic paraplegia associated with mental retardation. Detailed phenotyping and mutation analysis was undertaken in three individuals with SPG45 from a consanguineous family of Arab Muslim origin. Using whole‐exome sequencing, we identified a novel homozygous missense mutation in NT5C2 (c.1379T>C; p.Leu460Pro). Our data expand the molecular basis of SPG45, adding the first missense mutation to the current database of nonsense, frameshift, and splice site mutations. NT5C2 mutations seem to have a broad clinical spectrum and should be sought in patients manifesting either as uncomplicated or complicated HSP.

Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function.

© 2016 The Authors. doi: 10.2340/00015555-2307 Journal Compilation

Ichthyosis Prematurity Syndrome: From Fetus to Adulthood

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