CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis

2014 ◽  
Vol 41 (10) ◽  
pp. 787-790 ◽  
Author(s):  
Susanne Gantner ◽  
Arno Rütten ◽  
Luis Requena ◽  
Gerhard Gassenmaier ◽  
Michael Landthaler ◽  
...  
Keyword(s):  
PEDIATRICS ◽  
1992 ◽  
Vol 89 (5) ◽  
pp. 898-901
Author(s):  
Alan Frechette ◽  
Mary Ellen Rimsza

Stun guns are self-protection devices that are increasingly available with few restrictions on their use and sale. We present a case of child abuse with a stun gun. The signs of such abuse are often subtle, and they may be underrecognized currently. The skin lesions that are often seen are hypopigmented circular macules, measuring approximately 0.5 cm in diameter. They may be raised slightly and erythematous if inflicted recently. Most characteristic of stun gun assault is pairing of lesions approximately 5 cm apart. We discuss the design, operation, and effects of stun guns, and give an extensive differential of abusive and nonabusive circular lesions.


2019 ◽  
Vol 94 (3) ◽  
pp. 341-343 ◽  
Author(s):  
Karina Romero Sandoval ◽  
Maria Cecília Rivitti Machado ◽  
Zilda Najjar Prado de Oliveira ◽  
Marcello Menta Simonsen Nico

Genes ◽  
2020 ◽  
Vol 11 (11) ◽  
pp. 1297
Author(s):  
Matthias Christen ◽  
Michaela Austel ◽  
Frane Banovic ◽  
Vidhya Jagannathan ◽  
Tosso Leeb

Loss-of-function variants in the NSDHL gene have been associated with epidermal nevi in humans with congenital hemidysplasia, ichthyosiform nevi, and limb defects (CHILD) syndrome and in companion animals. The NSDHL gene codes for the NAD(P)-dependent steroid dehydrogenase-like protein, which is involved in cholesterol biosynthesis. In this study, a female Chihuahua cross with a clinical and histological phenotype consistent with progressive epidermal nevi is presented. All exons of the NSDHL candidate gene were amplified by PCR and analyzed by Sanger sequencing. A heterozygous frameshift variant, c.718_722delGAACA, was identified in the affected dog. In lesional skin, the vast majority of NSDHL transcripts lacked the five deleted bases. The variant is predicted to produce a premature stop codon truncating 34% of the encoded protein, p.Glu240Profs*17. The mutant allele was absent from 22 additionally genotyped Chihuahuas, as well as from 647 control dogs of diverse breeds and eight wolves. The available experimental data together with current knowledge about NSDHL variants and their functional impact in humans, dogs, and other species prompted us to classify this variant as pathogenic according to the ACMG guidelines that were previously established for human sequence variants. Therefore, we propose the c.718_722delGAACA variant as causative variant for the observed skin lesions in this dog.


2021 ◽  
Author(s):  
Penelope Kallis ◽  
Elizabeth Bisbee ◽  
Cheryl Garganta ◽  
Jennifer J. Schoch

Author(s):  
W.T. Collins ◽  
Charles C. Capen ◽  
Louis Kasza

The widespread contamination of the environment with PCB, a compound used extensively by industry in hydraulic and heat transfer fluids as well as plasticizers and solvents in adhesives and sealants, has resulted in detectable tissue levels in a large portion of the human population, domestic animals, and wildlife. Intoxication with PCB produces severe hepatic necrosis, degeneration of lymphoid tissues and kidney, skin lesions, decreased reproductive performance, reduced feed efficiency, and decreased weight gain. PCB also has been reported to reduce the binding of thyroid hormone to serum proteins and enhance the peripheral metabolism of thyroxine with increased excretion of thyroxine-glucuronide in the bile (Bastomsky, Endocrinology 95: 1150-1155, 1974).The objectives of this investigation were (1) to investigate the histopathologic, histochemical, and ultrastructural changes in thyroid FC produced by the acute (4 week) and chronic (12 week) administration of low (50 ppm) and high (500 ppm) doses of PCB to rats, (2) to correlate these alterations to changes in serum immunoreactive thyroxine concentration, and (3) to investigate the persistence of the effects of PCB on the thyroid gland.


1993 ◽  
Vol 26 (2) ◽  
pp. 215-230
Author(s):  
Gerry F. Funk ◽  
Henry T. Hoffman ◽  
Keith D. Carter
Keyword(s):  

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