Wrinkling was seen in 191 (95.5%) of cases. Most of the wrinkling was in the form of glyphic wrinkles on sun-exposed areas viz. face, neck, forearms and dorsa of hands. Generalized pruritus was present in 37 patients (18.5%) and psoriasis in 25 (12.5%). Fungal infection was the most common infection (70, 35%), followed by viral infections (10, 5%), pyodermas (4, 2%) and leprosy (3, 1.5%). Macul...

Neurofibromatosis (von Recklinghausen's disease) is a neuroectodermal disorder characterized by pigmentary changes of the skin (café-au-lait spots), cutaneous and visceral tumors (neurofibromas) and systemic abnormalities. The involvement of gastrointestinal tract in neurofibromatosis is not common. The most common symptoms, refer able to lesions in the gut, are hematemesis, melena and abdomina...

CASE REPORTS Three cases of pigmentary epithelial tears are described in this study. One of them was related to previous extrafoveal photocoagulation, whereas the other two were idiopathic. Fluorescein angiography (FA) and optical coherence tomography (OCT) were performed to confirm the clinical diagnosis. DISCUSSION Few studies using OCT to assess pigmentary retinal epithelial (RPE) tears ha...

Terminal osseous dysplasia with pigmentary defects (TODPD) is an X-linked dominant syndrome with distal limb anomalies, pigmentary skin defects, digital fibromas, and generalized bone involvement due to a recurrent mutation in the filamin A (FLNA) gene. We here report the mutation c.5217G>A in FLNA in three families with TODPD and we found possible germline and somatic mosaicism in two out of t...

Oculocutaneous albinism which is characterised by impaired melanin biosynthesis is the most common inherited pigmentary disorder of the skin and it is common among Blacks in sub-Saharan Africa. All albinos are at great risk of developing squamous cell carcinoma of sun-exposed skin, and Black albinos in sub-Saharan Africa are at about a 1000-fold higher risk of developing squamous cell carcinoma...

DLE/CCLE is a benign disorder of skin, most frequently involving face and characterised by well defined , red scaly patches of variable size which heal with atrophy, scarring & pigmentary changes. The histology is characteristic. Squamous cell carcinoma and less commonly basal cell carcinoma occasionally occur in scars of DLE particularly over scalp,ears.lips & nose. In one study by Millard et ...

Cystinosis is a rare autosomal recessive disorder characterized by the accumulation of cystine within the cells of different organs. Infantile nephropathic cystinosis is the most common and severe phenotype. With the success of renal transplantation, these patients are now living longer and thus more long-term complications within different organs are becoming apparent. Ophthalmic manifestation...

Laugier-Hunziker syndrome is a rare idiopathic acquired hyperpigmentation of oral mucosa and lips which is often associated with longitudinal melanonychia. This condition is known to be an entirely benign disease with no systemic manifestations. Herein we report a case of a 54-year-old woman presenting with a 7-year history of asymptomatic oral pigmentation and linear pigmented streaks of sever...

Neurofibromatosis type 1 (NF1) is a dominantly inherited multi-system disorder. Major features include pigmentary abnormalities, benign tumors of the nerve sheath (neurofibromas), malignant tumors, learning disabilities, and skeletal dysplasia. The NF1 gene functions as a tumor suppressor, but haploinsuffiency probably accounts for some aspects of the non-tumor phenotype. The protein product, n...

ABSTRACT Purpose: to analyze the results of neonatal hearing screening examinations in newborns with and without microcephaly, exposed Zika virus, other risk indicators for loss, verify association between results, sample characteristics, gestational trimester when exposure took place. Methods: a descriptive cross-sectional study. Subjects included study had no indicator loss than presented, al...