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Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia
PORCN is identified, encoding a putative O-acyltransferase and potentially crucial for cellular export of Wnt signaling proteins, as the gene mutated in FDH, implicate FDH as a developmental disorder caused by a deficiency in PORCN. Expand
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
It is reported for the first time that CHILD syndrome (MIM 308050), an X-linked dominant, male-lethal trait characterized by an inflammatory nevus with striking lateralization and strict midline demarcation, as well as ipsilateral hypoplasia of the body is caused by mutations in the gene NSDHL located at Xq28 encoding a 3beta-hydroxysteroid dehydrogenase functioning in the cholesterol biosynthetic pathway. Expand
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.
The findings indicate that the phenotypic expression of IFAP syndrome is quantitatively related to a reduced function of a key cellular regulatory system affecting cholesterol homeostasis and ability to cope with ER stress. Expand
Cigarette Smoking as a Triggering Factor of Hidradenitis suppurativa
From the exceedingly high rate of smokers among patients with this condition, it is concluded that cigarette smoking is a major triggering factor of hidradenitis suppurativa. Expand
PORCN mutations in focal dermal hypoplasia: coping with lethality
Molecular characterization of the PORCN mutations in cases diagnosed as Goltz syndrome is particularly relevant for genetic counseling of patients and their families since no functional diagnostic test is available and carriers of the mutation might otherwise be overlooked. Expand
Mutational spectrum of NSDHL in CHILD syndrome
A diagnosis can be established not only in classical cases but also in cases with minimal or atypical involvement of the CHILD syndrome, which is an X linked dominant, male lethal, multisystem birth defect characterised by an inflammatory epidermal nevus showing a unique lateralisation pattern and strict midline demarcation. Expand
HID and KID syndromes are associated with the same connexin 26 mutation
It is hypothesized that KID and HID syndromes may be genetically related, and another syndrome, called hystrix‐like ichthyosis–deafnesss (HID) syndrome, strongly resembles the KID syndrome. Expand
Becker's nevus syndrome revisited.
An overview of 55 cases of Becker’s nevus syndrome is presented as reported in the literature and in some personal communications to assess the clinical spectrum of this syndrome. Expand
Paradominant Inheritance May Explain Familial Occurrence of Cutis marmorata telangiectatica congenita
Cutis marmorata telangiectatica congenita is a rare congenital vascular anomaly that virtually always occurs sporadically and in a patchy, quadrant, unilateral or otherwise segmental manifestation, and some authors, however, described CMTC occurring in several members of a family. Expand
Linear atrophoderma of Moulin: postulation of mosaicism for a predisposing gene.
Hyperpigmented atrophoderma arranged in a pattern following the lines of Blaschko and appearing during childhood or adolescence on the trunk or the limbs is a characteristic feature of linearExpand