Two familial cases of Olmsted‐like syndrome with a G573V mutation of the TRPV3 gene

Olmsted syndrome (OS) is a rare disease, characterized by symmetrical, sharply defined, hyperkeratotic, mutilating plaques on the palms and soles, which are associated with periorificial keratotic plaques. Other clinical manifestations of OS include diffuse alopecia, leucokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular hyperkeratosis and constriction of the digits. A recent study identified de novo mutations in the gene for transient receptor potential vanilloid 3 (TRPV3), causing constitutive activation of the TRPV3 channel, as a cause of OS. We report familial inheritance of OS in a family from Mongolia, which was caused by a previously undescribed G573V point mutation in TRPV3. To date, mutations in the G573 residue of TRPV3 have been reported in seven cases of OS: G573S in five cases, and G573C and G573A mutations in one case each. We present a Mongolian familial case of G573V point mutation in TRPV3.     

Food allergen‐mediated exacerbations of oral lichen planus

Erosive oral lichen planus (OLP) is a chronic autoimmune condition of unknown aetiology, characterized by periods of exacerbation and quiescence. Many patients with OLP report triggers of flares that overlap with triggers of other oral diseases, including oral allergy syndrome (OAS), an IgE‐mediated food allergy. We report a case that, to our knowledge, is the first reported case of concurrent OLP and OAS diagnoses, which provides insight into the triggers of OLP and the role of trigger avoidance. A woman in her 60s presented with erosive OLP refractory to prednisone and azathioprine. She reported that certain food exposures triggered flares of her OLP. She was subsequently diagnosed with concurrent OAS, and avoidance of food allergens resulted in a clinically significant improvement in her OLP, eventually allowing her to taper off systemic treatment altogether. Further studies are needed to pinpoint common triggers and examine the role of trigger avoidance as a management strategy for OLP.     

A Rare Presentation of a Dermoid Cyst with Draining Sinus in a Child: Case Report and Literature Review

Orbitofacial dermoid cysts in children are treated using surgical excision. Dermoid cysts of the frontotemporal region usually present as superficial, slow‐growing masses without deep extension. We report a rare case wherein a frontotemporal dermoid in a 21‐month‐old girl presented with a draining sinus tract to the skin and extended intracranially through the sphenoid bone. It was removed surgically and a dermoid cyst was removed from the frontotemporal region, extending superficially from the skin sinus tract through the sphenoid bone and attaching to the dura of the anterior temporal lobe. In addition to our case presentation, a literature review was performed to identify the few reported similar cases in the published literature, the combination of which suggests that frontotemporal dermoid cysts with associated draining sinus tracts may require preoperative imaging with computed tomography or magnetic resonance imaging before surgical intervention because of the high likelihood of intracranial extension.     

Birt–Hogg–Dubé Syndrome Presenting as a Nevus Comedonicus–Like Lesion in an 8‐Year‐Old Boy

Birt–Hogg–Dubé syndrome is an uncommon genodermatosis characterized by hair follicle hamartomas and an increased risk of pneumothorax and renal cell carcinoma. Recognition of cutaneous manifestations is essential because it allows for early screening and management of systemic complications. We present the case of an 8‐year‐old boy with a recently described cystic and comedonal variant of the classic fibrofolliculoma, which had been present since birth.     

Extracellular superoxide dismutase ameliorates house dust mite‐induced atopic dermatitis‐like skin inflammation and inhibits mast cell activation in mice

Extracellular superoxide dismutase (EC‐SOD) is an enzyme that catalyses the dismutation of superoxide anions. It has multiple functions, such as reactive oxygen species scavenging, anti‐angiogenic, anti‐inflammatory, antichemotatic and antitumor activities. Recently, we demonstrated that EC‐SOD inhibits ovalbumin‐induced allergic airway inflammation in mice. However, the anti‐allergic effect of EC‐SOD on skin tissue and the role of EC‐SOD in mast cells, which are important for allergic responses, have not been well studied. In this study, we investigated whether EC‐SOD can alleviate atopic dermatitis in mice and inhibit mast cell activation. Treatment with human recombinant EC‐SOD ameliorated house dust mite‐induced atopic dermatitis in mice. Furthermore, the levels of pro‐allergic cytokine gene expression and histamine release increased in EC‐SOD KO mast cells and decreased in EC‐SOD overexpressing mast cells, suggesting that EC‐SOD inhibits mast cell activation. Consistently, a passive cutaneous anaphylaxis experiment showed more blood leakage from EC‐SOD KO mouse ear skin, implying that the lack of EC‐SOD increases allergic responses. These results suggest that EC‐SOD inhibits mast cell activation and atopic dermatitis and that the loss of EC‐SOD causes more severe allergic responses, implying that EC‐SOD might be a good drug candidate for treatment of allergic disorders, such as atopic dermatitis.