Burak Tekin

Infantile Bullous Pemphigoid Treated Using Intravenous Immunoglobulin: Case Report and Review of the Literature

We report a 5‐month‐old girl diagnosed with bullous pemphigoid who initially did not respond to systemic corticosteroids and dapsone but rapidly improved after the addition of intravenous immunoglobulin (IVIG) infusions. A literature search revealed anecdotal cases of infantile bullous pemphigoid treated with IVIG, although variable treatment regimens were used, and some resistant cases required additional medications such as rituximab for clinical remission.

Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin.

Inherited mutations in desmosome genes can present with a spectrum of skin, hair and cardiac abnormalities. Here we describe a 4‐year‐old Turkish boy with a cardio‐cutaneous syndrome resulting from compound heterozygous nonsense mutations in desmoplakin. Early recognition of such cases by clinical awareness of the dermatological features and molecular diagnostics can improve patient management through early cardiac support, although the risk of cardiomyopathy and arrhythmias poses a major health concern.

Papillon–Lefèvre syndrome: report of six patients and identification of a novel mutation

Papillon–Lefèvre syndrome is an autosomal recessive genodermatosis typically manifesting with the constellation of palmoplantar keratoderma and progressive early‐onset periodontitis. The cutaneous phenotype can be strikingly psoriasiform, possibly posing a diagnostic challenge. This rare disorder is caused by loss‐of‐function mutations in the CTSC gene, which encodes cathepsin C. We report six patients with Papillon–Lefèvre syndrome from five consanguineous Turkish families, in whom genetic analysis of the CTSC gene revealed four recurrent mutations (c.415G>A; c.1015C>T; c.1019A>G; and c.103–105delCTG) and a novel missense mutation (c.117G>T) in the homozygous state.

Facial discoid dermatosis: A further case of a novel entity.

MCNS. A 48-year-old man who had suffered from MCNS since the age of 23 years was referred to our hospital due to the excessive hair loss throughout the body. Although he had been treated with several types of medical treatments including oral prednisolone, the renal dysfunction associated with MCNS had never been completely recovered. Approximately nine months before his visit to our clinic, he noticed active hair loss throughout the body. Seven months after the beginning of hair loss, MCNS had relapsed again. Clinical examination showed complete hair loss throughout the body, including scalp, body and extremities (Fig. 1a). Blood test showed no thyroid dysfunction and negative anti-nuclear antibodies. Immunoglobulin E (IgE) showed higher values of 910 IU/mL. A histological examination of skin specimens from the scalp revealed increased percentage of telogen HF (Fig. 1b) and inflammatory cell infiltrations composed of lymphocytes and histiocytes around the HF bulb (Fig. 1c–e). Taken together, we diagnosed this case as alopecia universalis. Renal dysfunction was gradually improved by oral prednisolone therapy. Minimal change nephrotic syndrome is a common nephrotic disease in both children and adult, and is highly steroid responsive. High frequency of relapses of this disease is also well known. However, the pathogenesis of MCNS is still largely unknown. Histopathologically, there are no remarkable changes in the kidney. Similar with AA, T lymphocytes and their cytokine are reported to be involved in the pathogenesis of MCNS. Interestingly, MCNS is reported to be associated with allergic diseases and elevated serum IgE levels. Shao et al. also reported that “enzymatic degradation of IgE may remove the anionic charge on the glomerular filtration barrier, which is generated by the sulfate groups of heparan sulfate” (p. 266). Furthermore, the authors suggested the possibility that mast cells (MC) which express heparanase can degrade heparan sulfate in a subendothelial extracellular matrix and this may offer us a possible mechanism for the association between high serum IgE, MC and proteinuria. In line with this, IgE-dependent histamine-releasing factor is overexpressed in the nephrotic phase of MCNS. In fact, this patient has higher IgE levels, and a lot of MC can be detected around the HF (Fig. 1f–h). Intriguingly, perifollicular MC has recently been reported to play an important role in the development of AA. Although we could not detect direct evidence that MCNS induced alopecia universalis, our results may suggest that both diseases have similar pathogenesis.

Prevalence of obesity in paediatric psoriasis and its impact on disease severity and progression

The current literature suggests there is a possible connection between paediatric psoriasis and obesity. However, there is a paucity of research on the influence of increased adiposity on the severity of paediatric psoriasis and disease progression. We aimed to compare the prevalence of being overweight or obese in paediatric psoriasis patients and controls and assess the potential impact of being overweight/obese on disease severity and progression of disease.

Another adverse effect of vemurafenib: Gingival hyperplasia.

Dear Editor, Vemurafenib is a small-molecule inhibitor approved in the treatment of BRAF V600 mutation-positive metastatic melanoma. This targeted drug has notoriously been associated with a unique spectrum of skin toxicities which has been reported to be seen in all treated patients in a prospective study. Among these are maculopapular rash, photosensitivity, plantar hyperkeratosis, hand–foot reaction, keratosis pilaris-like reaction, verrucous papillomas and malignancies, notably keratoacanthoma/squamous cell carcinoma. To the best of our knowledge, gingival hyperplasia related to vemurafenib has only once been reported in a patient with metastatic melanoma showing progression despite vemurafenib treatment. Here, we report a similar observation, further underscoring gingival hyperplasia as a possible adverse effect of vemurafenib. A 33-year-old man with metastatic melanoma showing BRAF V600 mutation was referred to our clinic. He had stable disease under vemurafenib treatment for 6 months. During the course of vemurafenib treatment, mild alopecia, plantar hyperkeratosis and keratosis pilaris-like folliculocentric eruption were noted. In addition, he complained of new-onset painful swelling of the gums for 1 month. Oral examination revealed slightly frambesiform gingival hyperplasia accompanied by superficial erosions, more pronounced on the marginal and attached parts of the maxillary gingiva (Fig. 1). Due to decreased oral intake, vemurafenib treatment was interrupted for 1 week, leading to modest amelioration of the oral symptoms. Based on the absence of concomitant medications and medical conditions known to be associated with gingival hyperplasia and temporal relationship, gingival hyperplasia was attributed to vemurafenib. At the final examination, a combination treatment of vemurafenib and cobimetinib was planned. The cutaneous side-effects of vemurafenib have tentatively been explained by the paradoxical activation of retrovirusassociated sequence (RAS), which is an upstream component of the RAS–RAF–mitogen-activated protein kinase kinase– extracellular signal-regulated kinase intracellular signaling pathway, and thus, have been designated as “RASopathic”. Supporting this theory, many cutaneous adverse effects of vemurafenib, such as keratosis pilaris and plantar hyperkeratosis, coincide with the spectrum of cutaneous findings seen within the context of the inherited “RASopathies”. Mangold and colleagues argued that gingival hyperplasia may be another RASopathic adverse effect of vemurafenib. We hypothesize that another molecular pathomechanism may possibly account for the vemurafenib-associated gingival changes. Secondary resistance to vemurafenib, which is known to develop in almost all patients after a median interval of approximately 6 months, may involve the activation of an extrinsic pathway, called PI3K–AKT–mammalian target of rapamycin (mTOR). Interestingly, gingival hyperplasia is an important manifestation of both tuberous sclerosis complex and Cowden syndrome,

Interstitial mycosis fungoides with lichen sclerosus-like clinical and histopathological features

Abstract:Mycosis fungoides (MF) simulates a variety of dermatologic disorders histopathologically and clinically, well deserving the designation of a great mimicker. Interstitial MF is a rare, but well-recognized histopathological variant resembling the interstitial form of granuloma annulare or the inflammatory phase of morphea. From a clinical standpoint, MF can have a wide array of manifestations, including an anecdotal presentation with lesions clinically suggestive of lichen sclerosus (LS). We herein report a 25-year-old man with a history of patch-stage MF who later developed widespread LS-like lesions histopathologically consistent with interstitial MF. In some biopsies, additional features resembling LS were discerned. We think that our case might represent a unique variant of interstitial MF presenting with LS-like lesions. The diagnostic challenge arising from this uncommon presentation is discussed together with review of the literature.

Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification

303 Indian Journal of Dermatology, Venereology, and Leprology | May-June 2015 | Vol 81 | Issue 3 The important finding in this case was that subcorneal neutrophilic pustules and subcorneal eosinophilic pustules were observed simultaneously; however, it is difficult to explain the findings. We think that these two forms of pustules might be due to different pathogenic mechanisms or simply due to the time course of each lesion. A biopsy from the abdominal lesion performed 1 week after the appearance of the erythematous papules showed subcorneal eosinophilic pustules. By contrast, a biopsy from the right forearm performed 1 month after the occurrence of the vesicular eruptions displayed subcorneal neutrophilic pustules. Indeed, Takata et al.[1] performed a biopsy 3 weeks after onset and diagnosed eosinophilic cellulitis with subcorneal eosinophilic pustules, whereas Chao et al.,[2] performed a biopsy after 6 weeks and diagnosed eosinophilic cellulitis with subcorneal pustules containing both neutrophils and eosinophils. Eosinophils can release interleukin (IL)-8, which exhibits chemotactic activity for neutrophils.[5] We postulate that subcorneal eosinophilic pustules could be sequentially replaced by subcorneal neutrophilic pustules.

Hidradenitis suppurativa unresponsive to canakinumab treatment: A case report

Sir, Hidradenitis suppurativa is a chronic disorder manifesting with relapsing, deep‐seated nodules and abscesses in the inverse body areas which have a tendency to form sinus tracts, fistulae, and scar tissue.1,2 As specified in a recent Cochrane review, none of the interventions have consistently been effective in managing this debilitating condition.1 Similar to other dermatologic diseases, there is an increasing global trend toward pathogenesis‐directed therapies in hidradenitis suppurativa, particularly tumor necrosis factor (TNF)‐α inhibitors.3 Recently, two studies revealed an increased level/expression of interleukin (IL)‐1β in lesional and perilesional hidradenitis suppurativa skin, suggesting that the blockade of IL‐1 pathway may be of therapeutic value.4,5 Accordingly, IL‐1 inhibition has been studied in case reports/series and two clinical trials, mostly with encouraging results [Table 1]. Here, we report our unfavorable experience with canakinumab in a patient with hidradenitis suppurativa and briefly review the literature.

Interdigital pilonidal sinus, report of two cases

Hairdressers disease is an occupational acquired interdigital pilonidal sinus (IPS) of especially male barbers. Here, two cases of IPSs are reported. Both cases underwent surgical excision and primary closure. Six months follow-up period did not present any complications or recurrence. Caused by repeated implantation of foreign hair to the interdigital web space, IPS is preventable, but once acquired treated with surgical excision and primary closure or with a skin flap for postoperative comfort.