Ayse Deniz Yucelten

Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency

Protein kinase C delta (PRKCD) has essential functions in controlling B-cell proliferation and apoptosis, development of B-cell tolerance and NK-cell cytolitic activity. Human PRKCD deficiency was recently identified to be causative for an autoimmune lymphoproliferative syndrome like disorder with significant B-cell proliferation particularly of immature B cells. Here we report a child with a novel mutation in PRKCD gene who presented with CMV infection and an early onset SLE-like disorder which was successfully treated with hydroxychloroquine.

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.

Atypical presentations of eosinophilic fasciitis.

Eosinophilic fasciitis is an uncommon connective tissue disease that may mimic and overlap with other sclerosing disorders such as morphea and lichen sclerosus. Herein, we report four patients (two men and two women, aged 16-64 yeas) with eosinophilic fasciitis. There was overlap with both morphea and lichen sclerosus in 2 patients and with morphoea alone in 1 patient. Magnetic resonance imaging (MRI) was used for diagnosis in three patients and for assessing treatment response in one patient. Eosinophilic fasciitis may co-exist with morhoea and lichen sclerosus. In view of the overlapping clinical and histopathological features of these disorders, MRI may be helful in delineating the conditions by detecting involvement of fascia.

Acquired progressive lymphangioma: Case report with partial response to imiquimod 5% cream

Acquired progressive lymphangioma (APL), or benign lymphangioendothelioma, is an unusual entity derived from vascular structures. Clinically and histopathologically it may resemble Kaposis sarcoma and well‐differentiated angiosarcoma, causing a diagnostic problem. We report an individual with APL initially diagnosed with Kaposis sarcoma who underwent unnecessary laboratory testing. Imiquimod 5% cream stopped the progression of the lesion. Awareness of this rare entity may prevent patients from undergoing excessive testing. Imiquimod may be used as a safe, effective treatment option.

Saçli deride lokalize şişlik ile acil polikliniğine başvuran kiz hasta

Uc yas dort aylik kiz hasta Ocak 2014’de cocuk acil poliklinigine kafada, sacli deri uzerinde bir aydir buyumekte olan sislik yakinmasi ile basvurdu. Hastanin daha once topikal ve sistemik antibiyoterapi kullandigi ancak toplu igne basi kadar baslayan lezyonun giderek buyudugu ogrenildi. Fizik muayenesinde sol parietotemporal kemik uzerinde, yaklasik 5 cm boyutlu, yuzeyden kabarik, eritematoz, yer yer skuam ve purulan akinti iceren lezyon goruldu (Şekil 1,2,3). Dermatoloji Klinigi’ne danisilan hastadan alinan deri kazinti ve sac orneklerinin potasyum hidroksit ile direkt incelemesi sonucu septali hifler saptandi. Wood isigi ile degerlendirmede hafif yesil floresans goruldu. Ayrica mantar kulturu icin ornek gonderildi.

Symmetrical fusiform swellings around the proximal interphalangeal joints

A 15-year-old, otherwise healthy boy presented with 2-yearhistory of swelling and thickening localized to the lateral aspects of his fingers. Dermatological examination revealed fusiform soft tissue swelling on the lateral and medial aspects of the second to fourth proximal interphalangeal (PIP) joints of both hands (Figure 1). There was no arthralgia or limited range of motion. Rheumatological examination was otherwise normal. There was no history of repetitive trauma, tick-like habits or any mental disorders. Laboratory tests, including routine biochemistry, thyroid function tests, and rheumatologic markers, disclosed no abnormalities. An MRI and X-ray examination was normal except for soft tissue hypertrophy around the affected joints (Figure 2).