Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity.

We report 2 patients who first developed cutaneous manifestations, followed by autoimmune phenomena, infections, and hypogammaglobulinemia. They were initially diagnosed with common variable immunodeficiency; however, the diagnosis was revised to cytotoxic T-lymphocyte antigen 4 haploinsufficiency after genetic and functional testing.

Recalcitrant psoriasiform dermatosis of the face: Is it related to pityriasis rubra pilaris?

BACKGROUND: There are patients with recalcitrant psoriasiform plaques that do not fit into conventional categories of facial dermatoses. Our study aims to describe the clinicopathological characteristics of several patients with a unique presentation of persistent psoriasiform facial rashes. METHODS: This retrospective cross-sectional study analyzed clinical and histological data of known cases of recalcitrant psoriasiform dermatosis of the face diagnosed at National Skin Centre, Singapore, over 10 years. RESULTS: There were 8 Chinese patients with mean age at onset of 29 years. Majority had pink to pink-orange well-defined plaques with dry scale (n = 6, 75%), distributed mostly on the cheeks (100%) and chin (n = 7, 88%). Hyperkeratosis, parakeratosis, preserved granular layer and psoriasiform hyperplasia were showed in all biopsies. Other common findings included subtle subcorneal acantholysis, "checkerboard" alternating ortho-/parakeratosis, vacuolated keratinocytes and follicular plugging. All patients showed little treatment response. One patient eventually developed features of type II pityriasis rubra pilaris (PRP). Our study was limited by its small sample size and lack of a pre-existing diagnostic code. CONCLUSIONS: This recalcitrant psoriasiform facial dermatosis seems to be a distinct entity, with consistent and reproducible clinical features and a PRP-like histology, bearing some resemblance to the recently described condition-facial discoid dermatosis.

Cutaneous Plasmacytosis: A Clinicopathologic Study of a Series of Cases and Their Treatment Outcomes.

INTRODUCTION: Cutaneous plasmacytosis (CP) is a rare skin disorder characterized by multiple reddish brown nodules with polyclonal plasma cell proliferation. It has most often been reported to affect the trunk but is also known to affect the face and extremities in adults and is predominantly seen in Asians. The etiology is poorly understood, and there is no consensus on treatment methods. METHODS: Five cases diagnosed to have CP were collated from our institution. Their clinicopathologic features and treatment outcomes were reviewed. RESULTS: Four of the 5 patients presented with lesions that affected multiple sites of the body including the trunk, axillae, face, and limbs. The remaining patient had lesions localized to his axillae. The lesions were generally asymptomatic. All patients had hypergammaglobulinaemia but only one had a faint monoclonal band detected on immunofixation. Common findings in the biopsy results for all patients were perivascular plasma cell infiltrates without light chain restriction on kappa/lambda staining, as well as mast cell infiltrates. Partial remission of cutaneous lesions was observed in 3 of the patients, with 2 of them responding well to psoralen and ultraviolet A radiation therapy. CONCLUSION: CP presents with distinctive clinical features and characteristic histological features including polyclonal perivascular plasma cell infiltrates. The axilla seems to be a frequent and characteristic site of involvement and may be a useful clinical clue to the condition. In the management of patients with CP, it is important to exclude secondary causes of plasmacytic infiltrates. While there are no clearly established treatment modalities for CP, psoralen and ultraviolet A radiation therapy may be a viable option in view of the clinical improvement observed in our patients who received it.

Interstitial Granulomatous Variant of Scleromyxedema-A Diagnostic Pitfall.

Scleromyxedema is a rare disorder where patients may develop systemic manifestations such as monoclonal gammopathy, inflammatory polyarthritis, and esophageal and neurological dysfunction. Histologically, there may be atypical variants of scleromyxedema showing features resembling interstitial granuloma annulare. We report an unusual case of scleromyxedema with interstitial granulomatous pattern and highlight potential diagnostic pitfalls when encountered with such a variant.

A case series of imatinib-induced generalized hypopigmentation and progression of existing acquired dermal melanocytosis.

Imatinib mesylate is a tyrosine kinase inhibitor used in the treatment of oncological conditions, including chronic myeloid leukemia and gastrointestinal stromal tumors. The most frequent dermatological side effect reported is pigmentary abnormalities. We report a case series of three Asian Chinese females with preexisting acquired dermal melanocytosis that progressed after initiation of imatinib treatment, and concurrently developed generalized hypopigmentation of the skin. All three patients had similar histological findings on skin biopsy. It is postulated that the KIT/SCF pathway has a central role in the pathogenetic mechanism. Therefore, it is important for physicians to be aware of this potential side effect of paradoxical pigmentation in patients treated with imatinib.

Reflectance confocal microscopy is a useful non-invasive tool in the in vivo diagnosis of pigmented basal cell carcinoma in Asians.

BACKGROUND: The clinical differentiation between pigmented basal cell carcinoma (BCC) and other benign pigmented skin lesions can be challenging even with an additional dermoscopic evaluation, especially if the lesion is small. In vivo reflectance confocal microscopy (RCM) is an emerging, non-invasive imaging tool that allows near-microscopic evaluation of skin lesions. The features of RCM for pigmented BCC and seborrhoeic keratosis have previously been described. However, the use of RCM to differentiate between these clinically and dermoscopically challenging pigmented skin lesions among Asians has not yet been demonstrated. OBJECTIVES: We aimed to evaluate the usefulness of non-invasive RCM to differentiate between clinically and dermoscopically challenging pigmented skin lesions among Asians in a series of 11 lesions. METHODS: Nine patients with 11 clinically and dermoscopically difficult to distinguish pigmented skin lesions were evaluated by RCM to differentiate between pigmented BCC and benign lesions. In all cases, a histological confirmation of the RCM diagnosis was obtained. RESULTS: The clinical or dermoscopical characteristics were non-specific in all 10 cases. RCM detected features of pigmented BCC in nine patients and seborrhoeic keratosis in one patient. These were all confirmed by histological examination. CONCLUSIONS: This case series shows the value of non-invasive in vivo RCM imaging in the differentiation of malignant and benign pigmented lesions. Early diagnosis of small, pigmented BCC allows earlier excision with better prognosis. Future biopsies of benign lesions in cosmetic areas could also be avoided.

Hypopigmentation Induced by Frequent Low-Fluence, Large-Spot-Size QS Nd:YAG Laser Treatments.

The Q-switched 1064-nm neodymium-doped yttrium aluminum garnet (QS 1064-nm Nd:YAG) laser is increasingly used for nonablative skin rejuvenation or "laser toning" for melasma. Multiple and frequent low-fluence, large-spot-size treatments are used to achieve laser toning, and these treatments are associated with the development of macular hypopigmentation as a complication. We present a case series of three patients who developed guttate hypomelanotic macules on the face after receiving laser toning treatment with QS 1064-nm Nd:YAG.