Neonatal epidermolysis bullosa: lessons to learn about genetic counseling.

BACKGROUND: Epidermolysis Bullosa (EB) is a heterogeneous group of congenital blistering diseases that usually presents in the neonatal period. EB is classified into three major categories, each with many subtypes based on the precise location at which separation or blistering occurs, namely epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB) and dystrophic epidermolysis bullosa (DEB). METHODS: We describe genetics of neonatal EB in Hong Kong. RESULTS: Two neonates of consanguineous Pakistani parents had the EB-Pyloric Atresia (EB-PA) variant. One had a 4 kb homozygous deletion of exon 19-25 of the ITGB4 gene, and the other with only a histopathological diagnosis. Both died of sepsis in infancy. Aberrant COL7A1 mutations in the dominant and recessive EB were described. Genetic analysis, together with histopathological classification is important to aid prognosis and counseling. JEB and EB-PA are associated with consanguinity and mortality during infancy. Morbidity and prognosis of the autosomal dominant DEB are optimistic. The autosomal recessive DEB is more severe, with neonatal onset and recurrent blistering. It is also associated with chronicity and malignant changes when the child reaches adulthood. CONCLUSION: Exact genetic diagnosis aids in counseling of the family concerning the prognosis in the affected child and the risk of affected children in future pregnancies.

Treatment of Post-mastectomy Lymphedema with Herbal Medicine: An Innovative Pilot Study.

BACKGROUND: Lymphedema of the arms or legs is a difficult clinical problem yet devoid of effective treatment. Lymphedema is the result of obstructed lymphatic flow secondary to chronic infection, parasitic infestation, or postsurgical obstruction (eg, after axillary dissections). We arranged this clinical trial to investigate whether patients with limb lymphedema can benefit from a standard dose of Astragalus plus Paeoniae rubra to improve the symptomatology, functional capacity, and quality of life (QOL). METHOD: The pilot study was designed as a self-control clinical trial. Patients with post-mastectomy lymphedema were recruited. A double-herb formulation (Astragalus, Paeoniae rubra) with standard dosage was administered orally in a powdered form, 6 times per week for 6 months. Outcome measurements included standard limb volume changes measured by water displacement method; handgrip strength; and QOL for limb lymphedema questionnaire (LYMQOL). RESULTS: There were no reported adverse effects or complications; there were no episodes of infection during the period of study. There was a tendency of limb volume reduction by 6 months, which, however, did not reach statistical significance. There was a significant improvement in appearance and symptom scores as was assessed with the LYMQOL questionnaire. CONCLUSIONS: The oral herbal formula improved the symptomatology and QOL among the pilot group of patients with post-mastectomy lymphedema. Side effects were absent, and there was a trend of lymphedema reduction.

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5.

We report two Hong Kong children with severe generalized epidermolysis bullosa simplex (EBS), the most severe form of EBS, without a family history of EBS. EBS is a rare genodermatosis usually inherited in an autosomal dominant fashion although rare autosomal recessive cases have been reported. Genetic studies in these patients showed that the first case was due to a novel de novo heterozygous variant, c.377T>G (NM_000526.5 (c.377T>G, p.Leu126Arg)) in the KRT14 gene and the second case was due to a rare de novo heterozygous variant c.527A>G (NM_000424.4, c.527A>G, p.Asn176Ser) in the KRT5 gene. To our knowledge, the c.377T>G variant in the KRT14 gene has not been previously reported, and the c.527A>G variant in the KRT5 gene is a rare cause of severe generalized EBS. In severe generalized EBS, infants exhibit severe symptoms at the onset; however, they tend to improve with time. A precise genetic diagnosis in these two cases aided in counseling the families concerning the prognosis in their affected children and the recurrence risk for future pregnancies.

In vivo terahertz imaging to evaluate scar treatment strategies: silicone gel sheeting.

Silicone gel sheeting (SGS) is widely used for scar treatment; however, studies showing its interaction with skin and efficacy of scar treatment are still lacking. THz light is non-ionizing and highly sensitive to changes in water content and thus skin hydration. In this work, we use in-vivo THz imaging to monitor how SGS affects the THz response of human skin during occlusion, and the associated THz reflectivity and refractive index changes are presented. We find that SGS effectively hydrates the skin beneath it, with minimal lateral effects beyond the sheeting. Our work demonstrates that THz imaging is able to detect the subtle hydration changes on the surface of human skin caused by SGS, and it has the potential to be used to evaluate different scar treatment strategies.

In vivo estimation of water diffusivity in occluded human skin using terahertz reflection spectroscopy.

Water diffusion and the concentration profile within the skin significantly affect the surrounding chemical absorption and molecular synthesis. Occluding the skin causes water to accumulate in the top layer of the skin (the stratum corneum [SC]) and also affects the water diffusivity. Scar treatments such as silicone gel and silicone sheets make use of occlusion to increase skin hydration. However with existing techniques, it is not possible to quantitatively measure the diffusivity of the water during occlusion: current methods determine water diffusivity by measuring the water evaporated through the skin and thus require the skin to breathe. In this work, we use the high sensitivity of terahertz light to water to study how the water content in the SC changes upon occlusion. From our measurements, we can solve the diffusion equations in the SC to deduce the water concentration profile in occluded skin and subsequently to determine the diffusivity. To our knowledge, this is the first work showing how the diffusivity of human skin can be measured during occlusion and we envisage this paper as being used as a guide for non-invasively determining the diffusivity of occluded human skin in vivo.

Vastus Lateralis Muscle Free Flap for Skull Base Osteoradionecrosis in Nasopharyngeal Carcinoma.

Objectives To describe the first experience with a free vastus lateralis muscle-only flap to be used to cover and protect the exposed skull base and carotid artery from radiotherapy-induced skull base osteoradionecrosis (ORN). Design Retrospective review of a case series. Setting Tertiary academic medical center. Participants Post treatment nasopharyngeal carcinoma patients with skull base ORN. Main Outcome Measures Coverage of the internal carotid artery (ICA). Results Four patients underwent the procedure. Following the procedure, all patients were documented to have adequate viable soft tissue covering their ICA. Topical nasal steroids were prescribed to all patients as florid granulation tissue was noted to occur overlying the muscle flap in the early postoperative period. There were no flap failures. All patients noted an improvement in speech, cacosmia, and nasal crusting. No significant epistaxis occurred following surgery. Choanal stenosis was noted in three patients. Conclusion For skull base ORN resulting from the treatment of nasopharyngeal carcinoma (NPC) with radiotherapy that fails conservative management, an open approach to the nasopharynx, that allows debridement then placement of a vastus lateralis muscle-only free flap for coverage, offers a unique and viable approach to the management of this challenging condition.

THz in vivo measurements: the effects of pressure on skin reflectivity.

Terahertz (THz) light is non-ionizing and highly sensitive to subtle changes in water concentration which can be indicative of disease. The short THz penetration depth in bio-samples restricts in vivo measurements to be in a reflection geometry and the sample is often placed onto an imaging window. Upon contacting the imaging window, occlusion and compression of the skin affect the THz response. If not appropriately controlled, this could cause misleading results. In this work, we investigate and quantify how the applied pressure affects the THz response of skin and employ a stratified model to help understand the mechanisms at play. This work will enable future THz studies to have a more rigorous experimental protocol, which in turn will facilitate research in various potential biomedical applications under investigation.

Use of Intraoperative Indocyanine Green Videoangiography to Guide Cutaneous Angiosarcoma Excision.

Complete excision of cutaneous angiosarcoma, which is a rare, vascular, and aggressive tumor, is challenging. Its multifocal nature and propensity for lateral spread make the gross assessment of surgical margins difficult. Neither the use of frozen section analysis nor Mohs surgery consistently improves the probability of margin-free excision. Recent studies have advocated the use of indocyanine green to evaluate the vascular system perioperatively. We describe the intraoperative use of indocyanine green to help define the excision margin of a locally extensive scalp angiosarcoma in an elderly man.

A validation study of scar vascularity and pigmentation assessment using dermoscopy.

INTRODUCTION: Vascularity and pigmentation are two important indicators of the maturing status of hypertrophic scars. We used the dermoscope to measure vascularity and pigmentation of hypertrophic scars to examine its validity and reliability. MATERIALS AND METHOD: Eighteen subjects were assessed using the Vancouver Scar Scale (VSS), spectrocolorimeter and dermoscope. Correlations between the measurements by these tools and reliability parameters were examined. RESULTS: A strong correlation was found between the redness measured by spectrocolorimeter and the RGB redness values of dermoscope pictures (r=0.890). A correlation was found between the lightness measured by spectrocolorimeter and the lightness of dermoscope pictures (r=0.536), and between the lightness by spectrocolorimeter and the blanched dermoscope pictures (r=0.448). The calculated RGB values of redness of the dermoscope correlated with the VSS vascularity score (r=0.625); the transformed VSS pigmentation score correlated with the lightness of the blanched dermoscope pictures (r=0.783). The intra-class correlation coefficient (3, 1) of the dermoscope was 0.980 for the redness measurement and 0.965 for the lightness measurement, while the intra-class correlation coefficient (2, 2) was 0.930 for the dermoscope redness measurement and 0.871 for the dermoscope lightness. CONCLUSION: The dermoscope is a promising objective tool for vascularity and pigmentation assessments of hypertrophic scars with good validity and reliability.

A study of the maxillary and sphenopalatine arteries in the pterygopalatine fossa and at the sphenopalatine foramen.

OBJECTIVES: Arterial ligation remains a key option in the treatment of persistent epistaxis and clarification of the arterial configuration of the distal maxillary/sphenopalatine artery is important for understanding the rationale behind current surgical treatments. Greater understanding of the arterial anatomy will reduce the risk of technical failures and improve the reliability of surgical interventions for persistent epistaxis and will also be useful for surgeries involving the pterygopalatine fossa. STUDY DESIGN: Anatomical study in cadavers. METHODS: This is an anatomical study of 128 cadaveric tissue blocks containing the pterygopalatine fossa. In total, 118 tissue blocks were microdissected using a Watson-Barnet dissecting microscope. Ten injected tissue blocks were cleared by the Spalteholz technique. Photographic records were made. RESULTS: Analysis demonstrated three common configurations of the maxillary artery in the pterygopalatine fossa: a single looped form (18%) and two double-looped forms, 'E' (51%) and 'M' (31%). The maxillary artery bifurcates before the sphenopalatine foramen in 105 cases (89%). The sphenopalatine foramen lies at the posterior end of the middle turbinate; in 58% of cases it lies in both the superior and middle meati. Asymmetry in the size of the maxillary arteries was uncommon; only 3% could be described as 'dominant'. CONCLUSIONS: The arterial configuration of the maxillary artery in the pterygopalatine fossa can be complex but may be classified into one of three forms. Some configurations may be more liable to lead to difficulties with branch identification during surgical treatment of epistaxis particularly in combination with an inadequate osteotomy. Clinicians should expect to find more than one vessel exiting the sphenopalatine foramen and actively search for these during surgery. Asymmetry in the maxillary/sphenopalatine arteries is not common and contralateral ligations are not indicated.

Urban temperatures in Hong Kong: thermal environmental safety and implications for city planning.

Cutaneous thermal injury caused by direct contact with objects heated solely by sun exposure is rare. We undertook to investigate factors that may influence the temperature of sun-exposed objects at the ground level. Two clinical cases of burns caused by contact with sun-exposed objects are described. Surface temperatures on a citywide scale were determined from satellite thermal images. Ground level surface temperatures of a variety of objects were measured using an infrared thermometer. The satellite thermal image demonstrated local surface temperature differences (of more than 10.6 degrees C variation) and the temperature at the places of study (8.5-9.5 degrees C above background). Infrared thermometer readings demonstrated that the surface temperature of a sun-exposed black car could be as high as 75.0 degrees C (range, 71-78 degrees C) compared with 44.6 degrees C (42.2-47.3 degrees C) for a white car, and shading significantly reduced the surface temperatures of exposed objects (10.4-48.1%). The risk of injury is related to the effects of city planning on urban temperatures, of material color, composition, and shade on the ground level temperatures, and to the rise in global temperatures because of greenhouse-induced warming. The combined effect means that in a modern subtropical city such as Hong Kong, a substantial percentage of the urban area may have summertime surface temperatures that are high enough to constitute a health hazard. We recommend that this potential cause of harm to health be taken into account during urban planning.