Fahad Alsaif

Linear and whorled nevoid hypermelanosis associated with developmental delay and generalized convulsions

A 2‐year‐old Saudi boy was seen in our dermatology clinic with symmetrical, brown, linear macules over the legs, trunk, and arms ( Figs 1–3 ). He was a product of a full‐term vaginal delivery following an uneventful first pregnancy in a 22‐year‐old mother. The birth weight was 2.3 kg. The hyperpigmented macules followed the lines of Blaschko and were noticed a few months after birth; they had enlarged with body growth until the age of 18 months. There was no family history of a similar condition and the boys parents were unrelated. No blistering or inflammatory changes preceded the hyperpigmentation. The palms, soles, nails, scalp, mucous membranes, and teeth were normal. In addition to the hyperpigmented macules, the patient started to have generalized convulsions at the age of 2 months.

Profile of mycosis fungoides in 43 Saudi patients.

BACKGROUND AND OBJECTIVES Mycosis fungoides (MF) is a rare disease; and to our knowledge, there are no reports on its profile in Arabs. The objective of this study was to preliminarily analyze the clinical characteristics of MF patients seen in our institution. DESIGN AND SETTING Retrospective review of 140 patients with pathologic or clinical diagnosis or differential diagnosis of MF for the period 2000–2006. PATIENTS AND METHODS Pathology reports with diagnosis or differential diagnosis of MF were retrieved and suspected cases were identified and reviewed. For pathologically confirmed cases, sociodemographic, clinical, laboratory, and radiological details were collected. Details of staging, treatment modalities, and disease status at the last follow-up were retrieved. RESULTS A total of 43 pathologically confirmed MF patients (skin phototypes IV and V) with a mean age at diagnosis of 33.5 years were reviewed. This comprised 29 males (M:F ratio, 2:1), and the majority (86%) of patients had early-stage (I and II) MF. Twenty-one (48.8%) patients had classic MF; 18 (41.8%), hypopigmented MF; and 4 (9.3%), other variants. The male-to-female ratio was higher in the hypopigmented (3.5:1) than in the classic variant (1.6:1). The mean age at diagnosis was lower in the hypopigmented compared to the classic variant (25 versus 38.8 years, P=.019). The mean duration of follow-up was 27.6 months (range, 1–98 months). At the final assessment, 4 (9.5%) patients recovered; whereas 35 (83.3%) had MF skin disease; 1 had (2.4%) extracutaneous disease; and 2 (4.8%) died of MF. CONCLUSIONS MF tends to affect younger Saudi patients. The hypopigmented variant constitutes a significant proportion of MF cases, especially in younger patients.

Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC

Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder characterised by severe early onset periodontitis and palmoplantar hyperkeratosis. A previously reported missense mutation in the CTSC gene (NM_001814.4:c.899G>A:p.(G300D)) was identified in a homozygous state in two siblings diagnosed with PLS in a consanguineous family of Arabic ancestry. The variant was initially identified in a heterozygous state in a PLS unaffected sibling whose whole exome had been sequenced as part of a previous Primary ciliary dyskinesia study. Using this information, a proxy molecular diagnosis was made on the PLS affected siblings after consent was given to study this second disorder found to be segregating within the family. The prevalence of the mutation was then assayed in the local population using a representative sample of 256 unrelated individuals. The variant was absent in all subjects indicating that the variant is rare in Saudi Arabia. This family study illustrates how whole-exome sequencing can generate findings and inferences beyond its primary goal.

Unilateral Idiopathic Calcinosis Cutis: A Case Report

Calcinosis cutis is a rare disorder characterized by the deposition of calcium in the skin and subcutaneous tissue. Unilateral idiopathic calcinosis cutis has only rarely been reported in the literature. Here, we report the case of a 7-year-old healthy girl who presented with multiple asymptomatic hard nodules on the right side of her body. Histopathological, radiological, and extensive blood investigations confirmed the diagnosis of unilateral idiopathic calcinosis cutis.

Association of CYP2C9 Genetic Variants with Vitiligo

Background Vitiligo is a depigmenting skin disorder in which genetic factors play an important role. Objective To examine the association of CYP2C9 *1/*2/*3 gene polymorphism with vitiligo. Methods In this case controlled study, 95 Saudi patients with vitiligo (50 men and 45 women), with a mean age of 27.3 years, were analyzed. Patients were compared to 86 healthy controls from the same locality (76 men and 10 women), with a mean age of 20.1 years. In all participants, DNA was extracted and processed for characterization of 2C9 *1/*2/*3 gene variants using real time-polymerase chain reaction. Results Vitiligo patients have a significantly higher CYP2C9 *3 allele carriage rate compared to controls (32.7% versus 4.7%, p=0.00, odds ratio=9.9, 95% confidence interval=3.3~29.6). On the other hand, frequencies of CYP2C9 *2 genotypes and alleles did not show any significant difference between vitiligo cases and controls. When the frequencies of CYP2C9 genotypes were compared among subgroups of age, gender, family history, and disease patterns, the cases with positive consanguinity had significantly higher frequencies of homozygous genotypes than others (p=0.029). Conclusion CYP2C9 *3 allele carriage is probably associated with vitiligo susceptibility.

Interleukin-4 (-590 C>T) and Interleukin-4 Receptor (Q551R A>G) gene polymorphisms in Saudi patients with vitiligo

ejd.2013.2009 Auteur(s) : Hani A. Al-Shobaili1 hanisat@yahoo.com, A.A. Settin2, A.A. Alzolibani1, A. Al Robaee1, T.A. Salem2, F. Al-Saif3, E Al-Mekhadab3 1 Dermatology Department, 2 Research Center, College of Medicine, Qassim University P.O Box 5578 Unaizah 51911 Saudi Arabia 3 Dermatology Department, King Saud University, Saudi Arabia Vitiligo is a multifactorial autoimmune skin disorder affecting 0.1-2% of the world population [1]. An autoimmune etiology is strongly suggested, due to the fact [...]

Histologic characterization of cellular infiltration in autoimmune subepidermal bullous diseases in a tertiary hospital in Saudi Arabia

Background Autoimmune subepidermal bullous dermatoses have similar clinical features to those of a spectrum of immune reactants at the dermoepidermal junction (DEJ). It is difficult to obtain a precise diagnosis without an immunofluorescence assay because of their similar clinical presentations. The aim of this study was to describe the cellular cutaneous infiltration among autoimmune subepidermal bullous dermatoses. Materials and methods This retrospective analysis was conducted at a hospital in Riyadh, Saudi Arabia using biopsy-based data collected from 65 patients. Results Spongiotic changes, neutrophils, and lymphocyte infiltrations in the epidermis differed among the subepidermal bullous diseases. The DEJ showed a difference in the extent of neutrophil infiltration. The dermis showed differences in perivascular lymphocytic infiltration, neutrophilic infiltration, eosinophilic infiltration, and dermal edema. Conclusion The dermal and DEJ showed most of the histopathologic changes in subepidermal autoimmune bullous dermatoses.

Leser-Trélat Sign Presenting in a Patient with Relapsing Mycosis Fungoides

The Leser-Trélat sign is a rare sign of some malignant tumors and is characterized by the sudden appearance of seborrheic keratosis in association with an underlying malignancy. We describe a 60-year-old Saudi man with mycosis fungoides (MF) who developed numerous, rapidly growing, seborrheic keratoses on his face and back. To the best of our knowledge, this is the first reported case of MF with the Leser-Trélat sign from Saudi Arabia.

Nevus Lipomatosis Cutaneous Superficialis: A Single-Center Case Series of 5 Patients

Background: Nevus lipomatosis cutaneous superficialis (NLCS) is a rare hamartoma of mature adipose tissue characterized by solitary or multiple, soft, skin-colored or yellowish lobules that may coalesce to give rise to plaques with a cerebriform surface. There are two clinical types: (1) multiple lesions that are usually presented in a segmental distribution and (2) a solitary papule or nodule. Aim and Objective: To study the clinical and histopathological features of 5 Saudi patients with NLCS. Method: A retrospective analysis of clinical data and histopathological findings of 5 cases of NLCS in King Khalid University Hospital between January 2011 and November 2016. Demographic and clinical data were obtained from the clinical case files. Slides and tissue blocks were retrieved. H&E- and EVG-stained slides were studied in all cases. Results: We identified 5 patients with NLCS, of whom 4 were female. The average age at diagnosis was 36 years. The mean duration of the lesion was 4.4 years. The most common location was the lower part of the body. Most of the cases were diagnosed as skin papilloma before skin biopsy. Surgical excision was effective and no recurrence was observed. Conclusion: This is the first study about this rare type of skin tumor in Saudi Arabia and highlights the need for awareness of this clinical condition among dermatologists.

Dyschromatosis symmetrica hereditaria with cutaneous lupus erythematosus and hyperthyroidism

Dyschromatosis symmetrica hereditaria (DSH) is a rare genodermatosis characterized by various sizes of both hyper- and hypopigmented macules arranged in reticulated patterns on the face and the dorsal aspects of the extremities. There are also cutaneous and extracutaneous abnormalities, but they are rare. As far as we know, DSH associated with immune-mediated conditions has not been reported. We report the first case of DSH, which is associated with cutaneous lupus erythematosus and hyperthyroidism.