Congenital Bilateral Shoulder Dimples in a Newborn Case report and Review of the literature

Congenital Acromial or Shoulder dimples are cutaneous depressions overlying the acromial process of the scapula. They are usually bilateral and symmetrical. Isolated biacromial dimples are usually benign and warrant no further investigations. Family history in an autosomal dominant pattern, as in our case, is frequently obtainable but the majority of isolated bilateral shoulder dimples are sporadic. There are few reports of syndromic associations as well as two cases of associated maternal cocaine abuse. Our case is a term female neonate who was noted on routine new-born check to have bilateral symmetrical shoulder dimples. She was otherwise healthy, had normal range of shoulder movements and was not dysmorphic. On further assessment it transpired the father has the same bilateral shoulder dimples but was not aware of their existence. No further investigations were carried out. This case add to the few reported cases of Biacromial Dimples with autosomal pattern of inheritance in an otherwise normal baby

Clinical, Histopathological, and Management Challenges of Multiple Familial Trichoepithelioma: A Case Report of a Patient Presenting with Multiple Facial Papules

Trichoepitheliomas (TE) are benign skin tumours of the pilosebaceous apocrine unit with follicular differentiation. Multiple familial trichoepithelioma (MFT) is a considerably rare condition inherited in an autosomal dominant pattern. We present a case of a 15-year-old male who presented with multiple papulo-nodular lesions in the central face and a family history of a similar type of lesions from his mother. Significance of consideration of various clinical differential diagnoses with serious pathological outcomes, strategies followed in the diagnosis including histopathological evaluation aided by immunohistochemical investigations, and subsequent challenges that may be faced in the management of MFT in light of the presentation with multiple facial papules are documented in this case report.

Case Report: Congenital absence of uvula and trismus - a rare presentation of Van der Woude syndrome

Van der Woude syndrome (VWS) is the most common single gene mutation causing cleft lip/palate, responsible for approximately 2% of all cases. Inherited in an autosomal dominant pattern, VWS occurs at an incidence of 1 in 35,000 to 100,000. The most commonly reported manifestations of VWS is lip pits, cleft lip or palate. We present a case of a 34-week infant with unique and rarely reported symptoms of VWS, such as trismus and absent uvula.

Mendelian disorders causing hypertension

Several rare mendelian disorders where hypertension is the predominant manifestation have been characterized at the molecular level. These include glucocorticoid-remediable aldosteronism, the syndrome of apparent mineralocorticoid excess, Liddle’s syndrome, and Gordon’s syndrome. Hypertension and hypokalaemia are features of 11β‎-hydroxylase and 17β‎-hydroxylase deficiency—two rare recessive gene disorders of adrenal steroid-synthesizing enzymes that, among others, cause congenital adrenal hyperplasia. 11β‎-Hydroxylase deficiency usually presents in infancy or early childhood with virilization of both sexes, while presentation of 17β‎-hydroxylase deficiency may be delayed until adolescence or adulthood. Hypertension due to a phaeochromocytoma may be a feature of multiple endocrine neoplasia type 2 (MEN2, Sipple’s syndrome), which when familial is inherited in an autosomal dominant pattern, or rarely to be a feature of neurofibromatosis (von Recklinghausen’s disease).

Familial achalasia with an autosomal dominant pattern of inherence: Report of a Vietnamese family

Current pathophysiologic knowledge of achalasia suggests the important involvement of genetic predisposition. However, familial achalasia is very rare and most of the case reports in literature have shown an autosomal recessive pattern of inherence. We hereby report a case of familial achalasia with autosomal dominant pattern of inherence affecting ten members in three generations of a Vietnamese family.

Renal cyst occurring in a case of Darier’s disease

<p>Darier’s disease is a rare genodermatosis inherited in an autosomal dominant pattern. The disease is characterised by chronic persistent hyperkeratotic papular eruptions over the seborrheic regions. </p>

Multiple Non- Familial Trichoepitheliomas in a NineYear Child

Trichoepitheliomas are rare benign tumours of poorly differentiated trichogenic origin. They present as translucent lesions most commonly on centrofacial regions. Solitary lesions are seen in sporadic cases while multiple lesions are inherited in autosomal dominant pattern. We present a 9 year old child with multiple trichoepitheliomas at classical sites with none of the other family members involved.

Hereditary Leukonychia Totalis: A Case Report and Review of the Literature

Leukonychia is defined as white discoloration of the nails caused by an abnormal keratinization of the nail matrix. Congenital leukonychia totalis is a rare nail disorder, which is typically inherited in an autosomal dominant pattern. This condition can be presented as an isolated condition or in association with systemic diseases. We report a case of a 7-year-old Thai boy who developed asymptomatic white discoloration of all the nails since birth, with an absence of any predisposing factors or associated conditions.