Page 20 - SPD Review Winter 2014

Literature Review - Winter 2014

can affect the Scoring Atopic Dermatitis index. Finally, the lower measurements Campbell P, Morton P, Takeichi T, et al. Epithelial Inlammation Resulting from

of vitamin D levels in this study could be related to dietary restriction. Therefore, an Inherited Loss-of-Function Mutation in EGFR. J. Invest. Dermatol. 2014;134:

a link between low vitamin D level and food allergen sensitization cannot be 2570–2578.

proven and further studies should be done to determine causality of low vitamin

D level, food sensitization, and atopic dermatitis severity.
The authors of this report describe a 12-month-old boy who presented with

(Submitted by Maria Elena Miyar, MD)
widespread erosions since birth, with the subsequent appearance of diffuse

papules and pustules. His exam was also signiicant for loss of scalp hair, tri-

chomegaly, diffuse watery diarrhea and frequent skin and respiratory infec-

 SYNDROMES AND HEREDITARY DISORDERS
tions. Whole exome sequencing ultimately revealed a homozygous missense

mutation in the EGFR gene, which lead to aberrant cellular localization of Epi-

Kuttner V, Mack C, Gretzmeier C, et al. Loss of Collagen VII Is Associated with dermal Growth Factor Receptor (EGFR). Downstream signaling of EGFR was

Reduced Transglutaminase 2 Abundance and Activity. J. Invest. Dermatol. also abrogated, while signaling through pro-inlammatory pathways including

2014; 134: 2381–2389.
NF-➢B was enhanced. The patient’s clinical appearance is reminiscent of pa-

tients with ADAM17 metalloproteinase mutations, as well as patients experi-

The authors of this study examine collagen VII-deicient ibroblasts to better encing the toxicities of EGF receptor inhibitors used in the treatment of malig-

understand the diverse cellular changes that underlie the clinical phenotype nancy. (Submitted by Markus Boos, MD, PhD)

of recessive dystrophic epidermolysis bullosa (RDEB). Mass spectrometry and

isotope labeling of amino acids were the primary means by which they ana- Jouhadi Z, Khadir K, Ailal F, et al. Ten-Year Follow-Up of a DOCK8-Deicient Child

lyzed changes in cellular proteins and protein-protein interactions in collagen With Features of Systemic Lupus Erythematosus. Pediatrics 2014;134;e1458.

VII-deicient vs. wildtype ibroblasts. Most notably, the authors found that both

levels and activity of Transglutaminase 2 (TGM2) were decreased in the mutant This paper reports a 10-year-old girl with a known diagnosis of dedicator of

cell lines in vitro. They posit that reduction of the cross-linking function of TGM2 cytokinesis 8 (DOCK8) deiciency who then developed systemic lupus erythe-

results in improper cytoskeletal organization, decreased autophagy and de- matosus. As a form of hyper-immunoglobulin E syndromes (HIES), DOCK8 dei-

fects in cellular adhesion, which contributes to the clinical phenotype of RDEB. ciency usually presents with recurrent skin and pulmonary infections, allergies,

In turn, these indings suggest that collagen VII has important functions beyond and eczema. At age 5, she developed a photodistributed eczematous rash on

simple structural maintenance of the dermal-epidermal junction.
her face and neck. She had arthritis and arthralgias of her knees, elbows, and

(Submitted by Markus Boos, MD, PhD)
hands. Her laboratory results were notable for a positive ANA (1:640) and a skin

biopsy conirmed the diagnosis of lupus erythematosus. At age 8, she devel-

oped glomerulonephritis and sialadenitis. She is currently treated with hydroxy-

chloroquine and being considered for curative bone marrow transplantation.

This case of an autoimmune disorder in a patient with an immunodeiciency

syndrome underscores the complexity of the immune dysregulation in these

patients. (Submitted by Catherine Yang, MD)

20 SOCIETY FOR PEDIATRIC DERMATOLOGY  www.pedsderm.net