Spontaneous hemothorax: A rare lethal pulmonary complication of neurofibromatosis type 1

Neurofibromatosis 1 (NF1), also called von Recklinghausen’s disease, is an autosomal dominant disease characterized by multiple non-cancerous tumors of nerves and skin, and areas of abnormal pigmentation. Vasculopathy and spontaneous hemothorax are rare complications, but potentially lethal, which necessitates quick and decisive intervention to save the life of the patient. Here, we present a case of spontaneous massive haemothorax leading to hemorrhagic shock in a 66-year-old woman with neurofibromatosis type-1. She was investigated and managed successfully.

A Novel Frameshift Variant of the MITF Gene in a Chinese Family with Waardenburg Syndrome Type 2

Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation involving the hair, skin and iris. WS is classified into 4 subtypes (WS1–WS4) based on additional symptoms. WS2 is characterized by the absence of additional symptoms and is mainly attributed to variants in the microphthalmia-associated transcription factor (<i>MITF</i>) gene. We detected a novel frameshift variant c.1025_1032delGGAACAAG (NM_198159) of <i>MITF</i> in 5 patients with WS2 from the same Chinese family by using targeted next-generation sequencing and Sanger sequencing. Phenotypic and genotypic analyses of the family members suggested that this novel variants was pathogenic. Our finding expands the spectrum of <i>MITF</i> variants.

Skin Pigmentation Abnormalities and Their Possible Relationship with Skin Aging

Skin disorders showing abnormal pigmentation are often difficult to manage because of their uncertain etiology or pathogenesis. Abnormal pigmentation is a common symptom accompanying aging skin. The association between skin aging and skin pigmentation abnormalities can be attributed to certain inherited disorders characterized by premature aging and abnormal pigmentation in the skin and some therapeutic modalities effective for both. Several molecular mechanisms, including oxidative stress, mitochondrial DNA mutations, DNA damage, telomere shortening, hormonal changes, and autophagy impairment, have been identified as involved in skin aging. Although each of these skin aging-related mechanisms are interconnected, this review examined the role of each mechanism in skin hyperpigmentation or hypopigmentation to propose the possible association between skin aging and pigmentation abnormalities.

The underestimated role of the microphthalmia-associated transcription factor (MiTF) in normal and pathological haematopoiesis

Haematopoiesis, the process by which a restrained population of stem cells terminally differentiates into specific types of blood cells, depends on the tightly regulated temporospatial activity of several transcription factors (TFs). The deregulation of their activity or expression is a main cause of pathological haematopoiesis, leading to bone marrow failure (BMF), anaemia and leukaemia. TFs can be induced and/or activated by different stimuli, to which they respond by regulating the expression of genes and gene networks. Most TFs are highly pleiotropic; i.e., they are capable of influencing two or more apparently unrelated phenotypic traits, and the action of a single TF in a specific setting often depends on its interaction with other TFs and signalling pathway components. The microphthalmia-associated TF (MiTF) is a prototype TF in multiple situations. MiTF has been described extensively as a key regulator of melanocyte and melanoma development because it acts mainly as an oncogene. Mitf-mutated mice show a plethora of pleiotropic phenotypes, such as microphthalmia, deafness, abnormal pigmentation, retinal degeneration, reduced mast cell numbers and osteopetrosis, revealing a greater requirement for MiTF activity in cells and tissue. A growing amount of evidence has led to the delineation of key roles for MiTF in haematopoiesis and/or in cells of haematopoietic origin, including haematopoietic stem cells, mast cells, NK cells, basophiles, B cells and osteoclasts. This review summarizes several roles of MiTF in cells of the haematopoietic system and how MiTFs can impact BM development.

A Case of Amyloidosis Cutis Dyschromica

The patient was a 56-year-old female. The whole body has brown patches for 16 years. Dermatological examination: brown patches were observed on the trunk and lower limbs, with scattered hypomigmentation patches and symmetrical distribution of skin lesions. Histopathology of the skin showed mild hyperkeratosis in the epidermis, focal liquefaction degeneration in the basal layer, masses of light red stained material in the dermal papilla, scattered or small patches of lymphocytes and tissue cell infiltration around capillaries in the superficial dermis, more pigmentophagocytes and positive methyl violet staining were observed. Diagnosis: cutaneous amyloidosis with abnormal pigmentation. The patient is still being followed up.

Standardization of Poly Herbal Cosmetic Formula on Abnormal Pigmentation in Cutaneous Wound Healing – A Preliminary Study

Abnormal pigmentation in cutaneous wound healing has become a major cosmetic issue in the current society. Rising popularity of green labeled cosmetics which are environmentally sustainable with minimum side effects have greater demand in the world cosmetic market. Standardization of herbal formula is essential in order to assess the quality of drugs. Hence, the research study was designed to standardize the selected herbs based on comprehensive literary study on selected Varnaya Dravya (complexion promoting herbs) mentioned in Ayurveda authentic texts and Sri Lankan traditional manuscripts comprising of Terminalia chebula Retz, Terminalia belerica (Gaertn). Roxb, Phyllanthus emblica Linn, Rubia cordifolia Linn, Curcuma longa Trim, and Sesamum indicum Linn. Authentication of herbal ingreedients has been carried out at Bandaranayaka Memorial Ayurveda Research Institute, Nawinna, Sri Lanka. Microscopic identification, Moisture content, pH value, Total ash content and Colouring matter were tested determind through paper chromatography under WHO (2011) guidelines. Microscopic identification revealed that the poly herbal cosmetic formula in powder form contains yellow colour cells, stone cells, group of elongated stone cells, transparent cells, pitted vessels, spiral vessels, vessels filled with red, small fibers, oil globules, starch granules, needle shape crystals, hair and Trichoid. Moreover, moisture content of the formula was 6.3%, pH - 5.92 and total ash value - 4.45%. Determination of colouring matter indicated formula does not contain synthetic dyes. In addition, secondary plant metabolites like phenolic, tannins and saponins were present. Pharmacodynamics potential of the formula showed 25% kashaya (astringent) and tiktta (bitter) rasa (taste) accordingly. Further, 46% and 27% of formula showed ruksha (dryness) and laghu (lightness) guna (properties) along with 83% and 67% indicated ushna virya. (hot in potency) and madura (sweet) vipaka respectively. Due to presence of secondary metabolites, the poly herbal formula has anti-bacterial, anti-fungal and anti-oxidant potentials which will be favorable for skin complexion protection from bacteria and fungi. Moreover, Lekhana action gives scraping effect which is important for removing the scar. The study suggested that parameters found to be sufficient to evaluate the herbal cosmetic powder and could be used as reference standards and applicability of this formulae should be validated with a preclinical and clinical trials.

A case of partial albinism in the yellow-belly flounder, Rhombosolea leporina Günther, 1862 (Pleuronectiformes: Pleuronectidae) collected from Manukau Harbour, Auckland, New Zealand

A partial albino specimen of Rhombosolea leporina with a total length of 295 mm was collected from Manukau Harbour, south of Auckland City, New Zealand. This is the first record of abnormal pigmentation in the wild yellow-belly flounder from New Zealand waters. The specimen is patterned with a white blotch on the caudal peduncle area of the ocular side. Causes for such colour aberration are discussed.

Porphyria Cutanea Tarda Presenting as Erythema-multiforme Like Lesions

Porphyria cutaneatarda, is the most common type of porphyria.It is characterized by defective uroporphyrinogen III decarboxylase enzyme.It presents with erosion, bulla with milia formation and sometimes with hypertrichosis and abnormal pigmentation mostly on the photo-exposed sites. A urine fluorescence of coral red color helps in the diagnosis. Here, we present a rare case of porphyria cutanea tarda in a 15 years old male who presented with multiple targetoid plaques.Keywords: Erythema-multiforme; porphyria cutanea tarda; targetoid.