Ophthalmic manifestations of proboscis lateralis

Proboscis lateralis (PL) is a rare congenital malformation of the craniofacial structure with varied clinical associations. None of the studies documented a discrete review of ophthalmic presentations in PL. The principal aim of the present study is to explore the ophthalmic manifestations of PL. The ancillary goal is to derive a relationship between congenital deformity in PL and various ophthalmic anomalies. Databases were searched in order to obtain articles related to PL. A qualitative systematic analysis of 100 subjects was performed. In PL, eyelid coloboma (32.6%) is the most common ocular feature, followed by hypertelorism (25.3%), iris coloboma (22.4%), lacrimal system abnormality (20.7%), malpositioned eyebrow (14.4%) and retinochoroidal coloboma (12.9%). Sinonasal deformity is the most common systemic abnormality, detected in 87.9% of cases of PL, as compared with central nervous system involvement (56.2%) and other anomalies. The analysis showed a strong significant association between brain abnormalities and hypertelorism (p=0.000) and between brain abnormalities and micro-ophthalmia/anophthalmia (p=0.000). Statistically significant association was noted between cumulative ocular abnormalities and cumulative systemic abnormalities (p=0.001). The present study on PL reviewed the salient features of this rare congenital disorder. The study outcome provides a new aspect to concomitant ocular abnormalities. This study supports the view that other congenital anomalies in cases of PL had significant influence on certain ophthalmic anomalies.

Giant idiopathic pyoderma gangrenosum at an unusual site with highly elevated c-ANCA levels: A rare association

Pyoderma gangrenosum (PG) is a rare neutrophilic disorder with an incidence rate of 3–10 cases per million per year, characterized by classically painful and aseptic ulcers, which may be associated with underlying systemic diseases. The pathergy reaction is seen in one-fourth of patients with PG. Accurate and timely diagnosis is crucial, as PG is known for its rapid progression. The management of PG is challenging and depends on its severity and rate of progression. An underlying systemic involvement should be sought even in spite of no symptoms. Herein, we report a case of giant pyoderma gangrenosum involving almost the entire left buttock with exceptionally raised c-ANCA levels, but no underlying systemic abnormality. The patient reported intense pain, rapid progression of the ulcers, an inability to perform daily activities, was significantly morbid and pathergy-positive. Aggressive and early management is required in cases such as this. A dramatic response was achieved with a combination of cyclosporine, dapsone, and methylprednisolone pulses.

Trichoblastoma of lid: a masquerading tumour

A 62-year-old woman came to our hospital with complaints of painless gradual increase in dark coloured mass along inner canthus of the right eye. The surface of the mass was rough with a well-defined margin. No other systemic abnormality was detected. Wide margin excision was done and the excised mass was sent for histopathological examination. No skin grafting was done and the raw area was left for self-healing. In the next 3 weeks, skin growth over the raw area was observed and it was cosmetically acceptable. Histopathological examination revealed well-circumscribed tissue composed of aggregation of basaloid cells suggestive of trichoblastoma. Immunohistochemistry revealed positive staining of CD34 and CD10. Trichoblastoma is a rare entity seen in our clinical practice. Hence, a patient presenting with darker masses trichoblastoma can be considered as differential diagnosis.

Sporadic Progressive Symmetric Erythrokeratoderma: Classical Presentation of a rare Condition

Progressive symmetrical erythrokeratodermia (PSEK) is a rare autosomal dominant genodermatosis presenting in infancy or early childhood. An 11-year-old male presented with a history of pruritic, erythematous, scaly, hyperkeratotic plaques first noted at 5 years of age, with no history of similar lesions in the family. Cutaneous examination revealed multiple, irregularly shaped, erythematous plaques with fine, shiny white, adherent scaling distributed symmetrically over the face, trunk, inguinal area, bilateral axillae and extensor surfaces of limbs. Palmoplantar keratoderma was present with thickened, yellowish discolored nails. No systemic abnormality was found. The histopathological findings were consistent with PSEK. The case is being reported to increase the awareness about this rare disease.

A Rare Bilateral Presentation of Multiple Dens Invaginatus, Shovel-Shaped Incisor and Talon Cusp With Mesiodens

The aim of this paper is to describe a unique and unusual case of concomitant appearance of morphological dental anomalies in the maxillary anterior region, along with its management in a patient with no systemic abnormality. This case report describes the clinical and radiographic features of talon cusp, dens invaginatus, shovel-shaped incisors and a supernumerary tooth occurring in a single patient, which is a rare presentation. All 4 permanent maxillary incisors had dens invaginatus, the permanent maxillary canines showed the presence of talon cusps, the permanent maxillary central incisors were shovel-shaped and an erupted mesiodens was also observed. Treatment included restorative, surgical and orthodontic approaches.Kathmandu University Medical Journal Vol.12(4) 2014; 292-295

Isolated Congenital Hereditary Cataract in a Dizygotic Twin: Prenatal Ultrasonographic Diagnosis

Cataract, defined as opacity of the lens in one or both eyes, is a major cause of blindness throughout the world, and not uncommon, particularly in the elderly population. However, congenital cataracts are rare and occur with a frequency of 30 cases in 100,000 births. About one-third of the cases fall into the group inherited without systemic abnormality. Importantly, congenital cataracts produce deprivation amblyopia, refractive amblyopia, and retinal detachment, leading to lifelong visual impairment. Successful management is dependent on early diagnosis and referral for surgery when indicated. Here we present a case of hereditary bilateral cataracts in a dizygotic twin detected on prenatal ultrasound examinations and postnatally confirmed as congenital cataracts associated with posterior lenticonus.

Brainstem syndromes

Case History—A 78 yr old woman presenting with brainstem signs following a seizure.Brainstem syndromes typically cause ipsilateral cranial nerve lesions and contralateral long tract signs. They are commonly due to brainstem ischaemia, but can also be caused by neoplasia, demyelination, infective and hamartomatous lesions. Imaging, ideally with MRI rather than CT, is obligatory and only then—and possibly following other investigations to identify systemic abnormality or cerebrospinal fluid changes—can appropriate therapy be introduced....

Brainstem syndromes

Case History—A 78 yr old woman presenting with brainstem signs following a seizure. Brainstem syndromes typically cause ipsilateral cranial nerve lesions and contralateral long tract signs. They are commonly due to brainstem ischaemia, but can also be caused by neoplasia, demyelination, infective and hamartomatous lesions. Imaging, ideally with MRI rather than CT, is obligatory and only then—and possibly following other investigations to identify systemic abnormality or cerebrospinal fluid changes—can appropriate therapy be introduced....

Multiple developmental dental anomalies and hypermobility type Ehlers-Danlos syndrome

Concurrent existence of multiple developmental dental anomalies: hypodontia of permanent mandibular incisors, dentin dysplasia, transmigration, root dilaceration, ectopic eruption and delayed eruption combined with systemic abnormalities including joint hyperlaxity and skin hyperextensibility aided in diagnosis of a sporadic case of hypermobility type of Ehlers-Danlos syndrome in a Jordanian Arab male. In dental practice the presence of multiple developmental dental anomalies expressing simultaneous defects in different stages of tooth development should raise suspicion of possible of manifestation of an underlying systemic abnormality.