Ola Ahmed Bakry

Two Egyptian cases of lipoid proteinosis successfully treated with acitretin

BACKGROUND Lipoid proteinosis (Urbach-Wiethe disease) is a rare progressive autosomal recessive disorder, characterized histologically by deposition of periodic acid Schiff-positive, diastase resistant, hyaline-like material into the skin, upper aerodigestive tract, and internal organs. MAIN OBSERVATION We report two cases of lipoid proteinosis. A 2-year-old girl presented with vesiculobullous skin lesions on her face, trunk, extremities and scalp, inability to protrude the tongue and hoarseness of voice that appeared few months after birth. The other case is a 4-year-old girl, who presented with waxy papules on face and trunk, hoarseness of voice and enlarged lips and tongue. The lesions healed leaving pitted scars in both cases. Based on clinical, histopathological and laryngoscopy findings, lipoid proteinosis was diagnosed in both cases. Acitretin was started in a dose of 0.5 mg/kg/day in every child. Complete remission of cutaneous lesions and improvement of the hoarseness was observed after one year. CONCLUSION Acitretin may be benificial for treatment of mucosal and cutaneous lesions in lipoid proteinosis.

Immunohistochemical expression of aberrant Notch-1 signaling in vitiligo: An implication for pathogenesis☆ , ☆☆ , ☆☆☆ , ★,★★

The etiopathogenetic mechanisms leading to pigment loss in vitiligo are not fully understood. Notch signaling is required for development and maintenance of melanocyte lineage and acts as a key component among keratinocyte-melanocyte interactions. The current study aimed to investigate the possible role of Notch signaling and its effect on the whole melanocyte lineage in vitiligo and correlating it with the different clinicopathologic parameters. Using immunohistochemical technique, Notch-1 expression was evaluated in 50 lesional and 20 perilesional biopsies of patients with vitiligo in comparison with 20 normal skin biopsies as a control group. Lesional biopsies were stained with human melanoma black-45 and tyrosinase-related protein-2 to demonstrate the melanocyte lineage. Membranous and/or nuclear expression of Notch-1 was in favor of control and perilesional skin, whereas cytoplasmic expression appeared only in vitiliginous lesions (P < .05). Membranous and/or nuclear expression of Notch-1 was significantly associated with epidermal human melanoma black-45 positivity (P = .01) and percentage of expression in both epidermis (P = .02) and hair follicles (P = .03) of lesional skin. Cytoplasmic pattern of Notch-1 expression in epidermis was significantly found in lesions with white hair (P = .04) and in cases with marked keratinocyte vacuolization (P = .03). Segmental and acrofacial vitiligo were associated with mild to moderate Notch-1 intensity, whereas generalized vitiligo was associated with strong intensity of expression (P = .02). In conclusion, Notch-1 signaling is inactivated in vitiligo with consequent loss of epidermal and/or follicular active melanocytes. Aberrant Notch signaling in vitiliginous white hair and acral and segmental vitiligo may be the cause of their treatment resistance.

Role of hormones and blood lipids in the pathogenesis of acne vulgaris in non-obese, non-hirsute females

Context: Acne vulgaris (AV) is a common disease affecting all ages and ethnic groups. Androgens, skin and serum lipids, inflammatory signaling and regulatory neuropeptides seem to be involved in this multi-factorial process. Aim: The aim of this work was to determine hormonal levels and lipid profile in non-obese, non-hirsute females with AV. Subjects and Methods: A total of 60 non-obese, non-hirsute female cases with different grades of AV and 60 age- and gender-matched healthy volunteers were included. Measurement of serum total and free testosterone, sex hormone binding globulin (SHBG), estradiol and progesterone and blood lipids was done during the luteal phase of the menstrual cycle. Results: Total testosterone, free testosterone (FT) and progesterone levels were significantly higher (P < 0.001 for all) while estradiol levels (P < 0.001) and SHBG (P < 0.01) were significantly lower in cases than controls. Total cholesterol and low density lipoprotein cholesterol (LDL-C) levels were significantly higher (P < 0.001 for both) while high density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA-1) levels were significantly lower (P < 0.001 for both) in cases than controls. Higher values of FT (P = 0.03) and SHBG (P = 0.02) and lower values of estradiol (P = 0.04) levels were significantly in favor of severe acne. Higher values of cholesterol (P < 0.001) and LDL-C (P = 0.03) and lower values of HDL-C (P = 0.01) and ApoA-1 (P = 0.02) levels were significantly associated with severe acne. Conclusion: Changes in hormone levels and lipid profile in non-obese and non-hirsute females with AV should be considered in disease pathogenesis and in treatment prescription of these patients.

Serum Vitamin D in patients with alopecia areata

Background: Alopecia areata (AA) is a common, recurrent, autoimmune hair disorder. It has been found that vitamin D deficiency is associated with many autoimmune diseases. Aims: The current study aimed to estimate serum levels of 25-hydroxy vitamin D in patients with AA. Materials and Methods: This case–control study included 60 patients with AA and 60 age, gender, skin phototype, and body mass index-matched healthy subjects as a control group. Levels of serum 25-hydroxy vitamin D were estimated using ELISA technique. Results: Serum 25-hydroxy vitamin D levels were significantly lower in AA cases when compared with healthy controls (P < 0.001). The least values were significantly associated with alopecia totalis/universalis compared with patchy AA (P< 0.001) and ophiasis (P = 0.04). Severe AA showed significantly the lowest vitamin D levels compared with cases with mild (P = 0.002) and moderate disease (P = 0.03). A significant inverse correlation was found between 25-hydroxy vitamin D levels and age of the patients (r = −0.38; P = 0.03). There was no significant association between serum 25-hydroxy vitamin D levels and gender, disease duration, disease recurrence, nail affection, duration of sun exposure/day, or positive family history of AA. Conclusion: AA patients have lower levels of 25-hydroxy vitamin D than healthy subjects. More studies are required to assess the value of vitamin D supplementation in the treatment of that disease.

Evaluation of Aquaporin-3 Role in Nonmelanoma Skin Cancer: An Immunohistochemical Study.

Abstract Aquaporin-3 (AQP3), is an aquaglyceroporin, that plays a role in cell proliferation, tumorigenesis, and cell migration. This study aimed at evaluating the possible role of AQP3 in nonmelanoma skin cancer (NMSC) pathogenesis through its immunohistochemical expression in skin biopsies of these diseases. One-hundred and thirty cutaneous specimens were studied. These included 60 cases of NMSC and 40 normal skin and 30 psoriasis samples, from age- and gender-matched subjects, as a control group. AQP3 was expressed in 66.7% of basal cell carcinoma (BCC) cases and in 93.3% of squamous cell carcinoma (SCC) cases. Higher AQP3 expression (p = .01), expression percentage (p = .01), and H score (p = .04) were significantly associated with SCC compared to BCC. Normal skin and psoriasis showed significantly higher AQP3 expression (p = .001, p < .001, respectively), expression percentage (p < .001 for both), and H score values (p < .001, p = .001, respectively) compared to NMSC. Higher H score values in BCC were significantly associated with female gender (p = .02) and with nodular lesions (p > .001). Higher H score values in SCC were significantly associated with grade III tumors (p = .04) and AQP3 percentage of expression was significantly correlated with grade III tumors (r = .48, p = .009). In conclusion, AQP3 may play a role in NMSC pathogenesis. This probably occurs through aquaporin-mediated glycerol transport and ATP generation. Its downregulation, observed in the current work, is mostly a result of excessive proliferation. Further studies are needed to investigate the therapeutic effect of its inhibition in NMSC treatment.

Atherogenic index of plasma in non-obese women with androgenetic alopecia.

Androgenetic alopecia (AGA) is characterized by the local and gradual transformation of terminal scalp hair into vellus hair, which has a shorter and thinner shaft. Several studies have analyzed the relationship between AGA and cardiovascular disease in males, and few were conducted in females. The current study aimed to investigate lipid profile and atherogenic index of plasma in non‐obese females with AGA.

Immunohistochemical Study of Melanocyte–Melanocyte Stem Cell lineage in Vitiligo; A Clue to Interfollicular Melanocyte Stem Cell Reservoir

ABSTRACT There has been a long lasting controversy over whether melanocytes (MCs) in vitiligo are actually lost or still present but functionally inactive. We aimed to evaluate the MC cell lineage in follicular and interfollicular vitiliginous epidermis through immunohistochemical localization of Human Melanoma Black-45 (HMB-45) and Tyrosinase Related Protein 2 (TRP2) and to correlate it with clinicopathologic parameters. Using immunohistochemical techniques, skin biopsies from 50 vitiligo patients and 20 age- and gender-matched healthy subjects were examined. Differentiated active MCs were detected in 44% of interfollicular epidermis (IFE) and 46.7% of follicular epidermis (FE) in lesional skin. Melanocyte precursors/stem cells were detected in 54% of IFE and 63.3% of FE in lesional skin. Melanocyte precursors/stem cells of IFE were significantly associated with residual melanin pigment (p = 0.007) and with absence of angiogenesis (p = 0.05). HMB-45 percentage of expression in IFE was positively correlated with MC precursors/stem cells percentage in FE (r = +0.65, p < 0.001) and IFE (r = +0.33, p = 0.01). Melanocyte precursors/stem cells positivity (p < 0.001) was progressively decreasing with advanced histopathologic grading. There was no significant association between interfollicular or follicular expression of HMB-45, TRP2 or MC precursors/stem cells and the clinical type of vitiligo or its duration. In conclusion, functioning MCs may exist in vitiligo. The presence of MC precursors/stem cells in IFE may provide an additional reservoir needed for repigmentation.

Thyroid disorders associated with alopecia areata in egyptian patients.

Context: Alopecia areata (AA) is a common form of localized, non-scarring hair loss. The etiopathogenesis of the disease is still unclear, but the role of autoimmunity is strongly suggested. AA is commonly associated with various autoimmune disorders; the most frequent among them is autoimmune thyroid disorders. Aim: To determine whether AA is associated with thyroid autoimmunity or thyroid function abnormalities in Egyptian patients. Materials and Methods: Fifty subjects with AA (37 males and 13 females) without clinical evidence of thyroid disorders were selected from Dermatology Outpatient Clinic, Menoufiya University Hospital, Menoufiya Governorate, Egypt, during the period from June 2009 to February 2010. They were divided into 3 groups according to severity of AA. Fifty age and sex-matched healthy volunteers (35 males and 15 females) were selected as a control group. Every case and control were subjected to history taking, complete general and dermatological examination. Venous blood samples were taken from cases and controls after taking their consents for measurement of thyroid stimulating hormone (TSH), free T3, freeT4 and detection of Anti-thyroglobulin Antibody (Tg-Ab) and Anti-thyroid Peroxidase Antibody (TPO-Ab). Results: Subclinical hypothyroidism was detected in 16% of cases. There were statistically significant differences between cases and controls regarding levels of TSH, free T3 and free T4. There were significant differences between cases and controls regarding the presence of Tg-Ab and TPO-Ab. Conclusions: Every patient with AA should be screened for thyroid functions and presence of thyroid autoantibodies even in absence of clinical manifestations suggestive of thyroid affection.

Total serum immunoglobulin E in patients with alopecia areata

Context: Alopecia areata (AA) is a common form of localized, non-scarring hair loss. The pathogenesis of the disease is unknown. Previous evidence suggested the involvement of Th2 cytokines in disease pathogenesis. Aim: To determine serum level of total IgE, this is mainly influenced by Th2 cytokines, in Egyptian patients with AA. Materials and Methods: Fifty subjects with AA (28 males and 22 females) were selected from Dermatology Outpatient Clinic, Menoufiya University Hospital from February 2012 to December 2012. Subjects with other conditions that might elevate serum IgE were excluded from the study. Fifty age- and sex-matched healthy subjects were selected as a control group. Venous blood samples were taken from cases and controls for measurement of total serum IgE by enzyme-linked immunosorbent assay. Skin biopsy was taken from every case from an active area of hair loss. Results: Total serum IgE was elevated in 27 (54%) cases. Its values among patients ranged from 13.5 IU/ml to 780 IU/ml. There was a statistically significant difference between cases and controls with regard to mean value of serum IgE (P < 0.05). Mean value of IgE did not vary significantly with disease severity, patients’ age, patients’ gender, disease duration, site of lesions, and positive family history of AA. No correlation was found between serum IgE levels and histopathological changes detected in examined cases. Conclusions: Total serum IgE is elevated in AA. This elevation is not related to age, gender, disease duration, disease severity, site of affection or family history of AA.

Multiple familial trichoepithelioma with malignant transformation

Trichoepithelioma (TE) is a benign tumor of follicular origin that presents as small, skin-colored papules predominantly on the face. When more than one family member is affected, the disease is known as multiple familial trichoepithelioma (MFT). It is a rare autosomal dominant (AD) skin disease. Malignant transformation is very rare. We present a case of MFT in a female patient and her father with malignant transformation to basal cell carcinoma (BCC) in the father. We summarized the main histological differential parameters between TE and BCC and applied immunophenotyping for both by administration of Bcl2, CD34, CD10 and androgen receptor (AR) antibodies.