Eldad Silberstein

Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein

We describe an Israeli Jewish Moroccan family presenting with autosomal dominant seborrhea-like dermatosis with psoriasiform elements, including enhanced keratinocyte proliferation, parakeratosis, follicular plugging, Pityrosporum ovale overgrowth and dermal CD4 lymphocyte infiltrate. We mapped the disease gene to a 0.5-cM region overlapping the PSORS2 locus (17q25) and identified a frameshift mutation in ZNF750, which encodes a putative C2H2 zinc finger protein. ZNF750 is normally expressed in keratinocytes but not in fibroblasts and is barely detectable in CD4 lymphocytes.

Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

Autosomal recessive Adams–Oliver syndrome was diagnosed in three remotely related Bedouin consanguineous families. Genome-wide linkage analysis ruled out association with known Adams–Oliver syndrome genes, identifying a single-homozygosity ∼1.8-Mb novel locus common to affected individuals (LOD score 3.37). Whole-exome sequencing followed by Sanger sequencing identified only a single mutation within this locus, shared by all affected individuals and found in patients from five additional apparently unrelated Bedouin families: a 1-bp deletion mutation in a predicted alternative splice variant of EOGT, leading to a putative truncated protein. RT-PCR demonstrated that the EOGT-predicted alternative splice variant is ubiquitously expressed. EOGT encodes EGF-domain-specific O-linked N-acetylglucosamine transferase, responsible for extracellular O-GlcNAcylation of epidermal growth factor-like domain-containing proteins, and is essential for epithelial cell-matrix interactions. F-actin staining in diseased fibroblasts showed apparently intact cell cytoskeleton and morphology, suggesting the EOGT mutation acts not through perturbation of cytoskeleton but through other mechanisms yet to be elucidated.

Aplasia cutis congenita: clinical management and a new classification system.

Background: Aplasia cutis congenita is a rare, congenital disorder. In its severe phenotype, it is potentially life threatening. Its management and the timing of surgery remain controversial because of the risks involved with both conservative and surgical approaches. Most literature is based on case reports and very small case series because of the rarity of the disorder. The authors present their experience treating newborns with aplasia cutis congenita and its progressive development. Methods: Using a hospital registry, the authors found all cases of newborns diagnosed with aplasia cutis congenita during the years 2000 to 2013. Clinical data were gathered from hospital and clinic records, and photographs were obtained by the plastic surgery team. Results: Twenty-two cases of aplasia cutis congenita were included in this study: 21 on the scalp and one on the foot heel. Eleven patients were male and 11 were female. Defect size ranged from 1 to 150 cm2 (average, 29 cm2). Three patients died as a result of uncontrollable hemorrhage. Six patients underwent emergency coverage, one with allografts later replaced by split-thickness skin grafts and five by immediate split-thickness skin grafting. All of the patients who underwent immediate skin grafting survived and thrived. Conclusions: The authors emphasize the role of emergency split-thickness skin grafting in the treatment of large aplasia cutis congenita or ones with large veins or sagittal sinus exposure. The authors also present a practical, treatment-oriented classification that could assist physicians in estimating the severity and therefore prognosis of the disease and offer a treatment guideline. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.

Admission Cell Free DNA as a Prognostic Factor in Burns: Quantification by Use of a Direct Rapid Fluorometric Technique

Background. Despite great advances in the treatment of burn patients, useful prognostic markers are sparse. During the past years there has been increasing interest in circulating plasma cell free DNA as a potential marker for tissue injury. We have developed a rapid direct fluorescent assay for cell free DNA quantification that allows obtaining accurate, fast, and inexpensive measurements. Objective. To use this technique for measuring plasma cell free DNA levels in burn patients and to further explore the use of cell free DNA as a potential marker of patient outcome in burns. Methods. Cell free DNA levels obtained from 14 burn victims within 6 hours of injury and 14 healthy controls were quantified by a direct rapid fluorometric assay. Results. Patient admission cell free DNA levels were significantly elevated compared with that of controls (1797 ± 1523 ng/mL versus 374 ± 245 ng/mL, P = 0.004). There are statistically significant correlations between cell free DNA admission levels and burn degree (Spearmans correlation = 0.78, P = 0.001), total body surface area (Spearmans correlation = 0.61, P = 0.02), and total burn volume (Spearmans correlation = 0.64, P = 0.014). Conclusions. Admission cell free DNA levels can serve as a prognostic factor in burns and future routine use can be made possible by use of our direct rapid fluorometric assay.

Lymph Node Metastasis in Cutaneous Head and Neck Squamous Cell Carcinoma.

BACKGROUND Cutaneous squamous cell carcinoma (CSCC), the second most common cancer in whites, may result in nodal metastasis in 4% of patients. In the last decade, sentinel lymph node biopsy (SLNB) became the common practice for treating patients with invasive skin cancers such as melanoma, although its use in patients with CSCC is still under debate. OBJECTIVE To find the rate of cervical lymph node metastasis in the series of patients with CSCC of the head and neck and to identify those who may need SLNB. MATERIALS AND METHODS A retrospective data collection on all patients diagnosed with CSCC of head and neck during the years 1998 to 2005. RESULTS A total of 572 patients with 725 head and neck CSCC were included in the study group. During the follow-up period, 10 (1.3%) patients developed lymph node metastases and no patient developed distant metastases. The probability of lymph node metastasis within 6 years for T1 and T2 tumors was 1.09% and 5.46%, respectively (p = .0387). CONCLUSION Because of the relatively low incidence of cervical lymph node metastases in patients with CSCC of the head and neck, SLNB for clinically N0 patients is not justified.

Facial Reconstruction of a Mucormycosis Survivor by Free Rectus Abdominis Muscle Flap, Tissue Expansion, and Ocular Prosthesis.

Invasive sinonasal mucormycosis is a rare fungal infection that usually occurs in immunocompromised or diabetic patients, and it is often fatal. The authors present a case of a woman patient suffering from systemic lupus erythematosus and diabetes mellitus treated with prednisone, presenting with a rapidly progressive rhino-orbital-cerebral mucormycosis. She was successfully treated with combined intravenous antifungal therapy and radical debridement followed by complex defect reconstruction with a free vertical rectus abdominis myocutaneous flap, tissue expander, and ophthalmic prosthesis.

Polydactyly in the multiethnic 'Negev' population at southern Israel.

The objective of this study was to characterize the prevalence, ethnic mix, and associated malformations of polydactyly in a multiethnic population. A retrospective analysis of 189 polydactyly patients was carried out. The incidence of polydactyly was 0.5/1000 live births and was higher in the Bedouin population. Preaxial polydactyly was 10 times more prevalent in the Jewish population and sporadic, and postaxial polydactyly was more prevalent in the consanguineous Bedouin population and associated with other malformations. We conclude that the pathologies in embryogenesis leading to preaxial and postaxial polydactyly vary, with the former occurring sporadically compared with the latter, which predominates in consanguineous families and syndromes.

Columellar reconstruction: a refinement of technique

The nose is an important landmark of the face and its shape and beauty is of significant concern. The columella is the subunit between the two nostrils that provides support and projection to the nasal tip and has functional role in nostrils, as well as aesthetic. Ethiology for columellar absence or deficiency is diverse, and it is one of the most complex nasal subunits to reconstruct because of its narrow horizontal dimension, its tenuous vascularity and limited availability of adjacent tissue. We present a patient with columellar, membranous septum and upper lip defect, due to oncological resection. The lip reconstruction was designed using advancement of two upper lip edges with the technique of webster perialar/nasocheek advancement. However, the perialar/nasocheek tissue which is usually discarded was used as inferiorly based skin flaps to reconstruct the membranous septum, columellar skin and nasal vestibule lining. Rib cage cartilage graft was used as columellar strut for support. At 1-year follow-up, the patient has good nasal contour and projection. Scaring of the columella is very subtle. This is a versatile way for successful reconstruction of a columella and large central facial defect in one-stage operation. It is a method which provides very satisfactory aesthetic result with minimum patient morbidity and discomfort.

Increasing the Efficacy of SLNB in Cases of Malignant Melanoma Located in Close Proximity to the Lymphatic Basin.

Background. Being predictive of the entire nodal bed, sentinel lymph node biopsy (SLNB) is invaluable in the surgical management of melanoma. Although the concept is simple, sentinel lymph node (SLN) identification and removal can be technically challenging. Methods. A total of 102 consecutive patients have undergone SLNB in the Division of Plastic and Reconstructive Surgery of Soroka University Medical Center from 2009 to 2012. Patients have undergone SLNB using a radioactive tracer and blue stain in order to identify the SLN. Although SLNB usually precedes the wide excision of melanoma, primary lesions in close proximity (<10 cm) to the lymph basin require wide excision before beginning the SLN quest. Results. All pathology reports confirmed the excision of lymph nodes. Conclusions. When treating MM in close proximity to the lymph basin, changing the sequence of the SLNB procedure seems to increase the efficacy of the method.