Oro-Dental Manifestations in a Pediatric Patient Affected by Helsmoortel-Van der Aa Syndrome

Aim: Aim of this case report is to describe oro-facial abnormalities in a patient affected by Helsmoortel-Van der Aa syndrome, a rare autism syndrome, with not well described dental and cranial malformations. Case Report: Helsmoortel-Van der Aa Syndrome is a rare autosomal genetic syndrome causing mental impairment and autism, craniofacial dysmorphism, chest deformity and multiple organs dysfunction. Oro-facial involvement in Helsmoortel-Van der Aa syndrome has not been thoroughly described yet. The present article reports a case of a 9 years old male patient affected by Helsmoortel-Van der Aa Syndrome, presenting with oral breathing typical facies, high arched palate, II class and dental crowding. The patient teething was adequate to his age. The enamel of incisors and molars showed demineralization areas and dark spots, a clinical picture consistent with molar incisor hypomineralization syndrome. These hypo-mineralized areas are more susceptible to cavities, in fact the patient’s 4.6 tooth was decayed. The child was brought to our attention due to a mucocele on the lower lip, confirmed by histopathologic examination. Available data on oro-dental manifestation of this syndrome are rather poor and inconsistent, also due to the rarity of the disease. The finding of enamel abnormalities in the presented case could suggest a potential genetic etiopathogenesis linked to the same genes causing Helsmoortel-Van der Aa syndrome.

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BILATERAL LOWER LIP CANCER IN PATIENT AFTER ORBITAL EXENTERATION AND SUBTOTAL MAXILLECTOMY- CASE REPORT

10.26226/morressier.578e3b4dd462b80292381e0c ◽

2016 ◽

Author(s):

Fellanza Gjinolli

Keyword(s):

Case Report ◽

Orbital Exenteration ◽

Lip Cancer ◽

Lower Lip

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Proteus syndrome in pregnancy: A case report

Obstetric Medicine ◽

10.1177/1753495x20970791 ◽

2020 ◽

pp. 1753495X2097079

Author(s):

Niccole Ranaei-Zamani ◽

Mandeep K Kaler ◽

Rehan Khan

Keyword(s):

Case Report ◽

Case Reports ◽

Proteus Syndrome ◽

Cutaneous Lesions ◽

Genetic Syndrome ◽

Skeletal Tissue ◽

First Case ◽

Large Teaching Hospital ◽

Clinical Presentations ◽

In Pregnancy

Proteus syndrome is a rare, multi-system, genetic syndrome characterised by atypical and excessive growth of skeletal tissue. Clinical presentations include abnormal musculoskeletal growth and cutaneous lesions. Due to its rarity, there have been a limited number of published case reports of Proteus syndrome. This is the first case report on the management of Proteus syndrome in pregnancy. We present the case of a pregnant woman with Proteus syndrome in her first pregnancy in a large teaching hospital and discuss the considerations and challenges faced in her antenatal, intrapartum and postnatal care.

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Van der Woude syndrome presenting as a single median lower lip pit with associated dental, orofacial and limb deformities: a rare case report

Journal of the Korean Association of Oral and Maxillofacial Surgeons ◽

10.5125/jkaoms.2017.43.4.267 ◽

2017 ◽

Vol 43 (4) ◽

pp. 267 ◽

Cited By ~ 3

Author(s):

Sunil Richardson ◽

Rakshit Vijay Khandeparker

Keyword(s):

Case Report ◽

Rare Case ◽

Van Der Woude Syndrome ◽

Lower Lip ◽

Rare Case Report ◽

Limb Deformities

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Burkitt's lymphoma presenting as lower lip paraesthesia in a 24 year old Nigerian. Case report

Australian Dental Journal ◽

10.1111/j.1834-7819.1999.tb00538.x ◽

1999 ◽

Vol 44 (1) ◽

pp. 58-60 ◽

Cited By ~ 7

Author(s):

V. I. Ugboko ◽

K. C. Ndukwe ◽

K. A. Adelusola ◽

M. A. Durosinmi

Keyword(s):

Case Report ◽

Burkitt’S Lymphoma ◽

Burkitt's Lymphoma ◽

Lower Lip

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Dysgenetic Polycystic Disease of Minor Salivary Gland: A Rare Case Report and Review of the Literature

Case Reports in Pathology ◽

10.1155/2017/5279025 ◽

2017 ◽

Vol 2017 ◽

pp. 1-5

Author(s):

N. Srikant ◽

Shweta Yellapurkar ◽

Karen Boaz ◽

Mohan Baliga ◽

Nidhi Manaktala ◽

...

Keyword(s):

Differential Diagnosis ◽

Salivary Gland ◽

Case Report ◽

Rare Case ◽

Minor Salivary Gland ◽

Rare Entity ◽

Review Of The Literature ◽

Lower Lip ◽

Polycystic Disease ◽

Rare Case Report

Polycystic (dysgenetic) disease of the salivary glands is a rare entity that has only recently been described in the literature. The disease is more commonly seen in females and majority of the cases have presented as bilateral parotid gland swellings. This case presenting in a 21-year-old male is the first of this unusual entity involving solely the minor salivary gland on the lower lip. This case report highlights the importance for the clinician to be aware of this differential diagnosis, when treating an innocuous lesion like a mucocele.

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Photodistributed sarcoidosis: a case report and approach to management

SAGE Open Medical Case Reports ◽

10.1177/2050313x18796877 ◽

2018 ◽

Vol 6 ◽

pp. 2050313X1879687

Author(s):

Cristina Olteanu ◽

Brandon Worley ◽

Iris Teo ◽

Jillian Macdonald

Keyword(s):

Case Report ◽

Ionizing Radiation ◽

Bone Pain ◽

Prior Exposure ◽

Systemic Involvement ◽

Pruritic Rash ◽

Cutaneous Involvement ◽

Multiple Organs ◽

History Of ◽

Idiopathic Disease

Sarcoidosis is an idiopathic disease, characterized by non-caseating granulomas in multiple organs/tissues. Cutaneous involvement occurs in approximately one-quarter of patients with a wide variety of presenting morphologies. This case report describes a case of photodistributed sarcoidosis, a rare cutaneous variant, with systemic involvement. A 42-year-old man presented with a history of a pruritic, rash with photoexacerbated annular plaques along with arthralgias and bone pain. Compared to previous reports of photodistributed sarcoidosis, our case presented with annular plaques rather than papules, and there was no prior exposure to ionizing radiation. He was treated successfully with prednisone and hydroxychloroquine. It is important to include sarcoidosis in the differential of photodistributed dermatoses.

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Surgery for recurrent lower lip carcinoma

Kathmandu University Medical Journal ◽

10.3126/kumj.v6i3.1715 ◽

1970 ◽

Vol 6 (3) ◽

pp. 375-378

Author(s):

S Maharjan ◽

M Bista ◽

KC Toran ◽

KD Joshi

Keyword(s):

Squamous Cell Carcinoma ◽

Medical Journal ◽

Case Report ◽

Cell Carcinoma ◽

Key Words ◽

Squamous Cell ◽

Lower Lip ◽

Recurrent Squamous Cell Carcinoma ◽

Lip Carcinoma ◽

Deltopectoral Flap

A 38 year old gentleman presented with recurrent Squamos cell carcinoma of lower lip. He had earlier undergone previous surgeries and radiotherapy. At the time that he presented in KMCTH his lower lip area was much scarred and the tongue was shrunk and unavailable for vermilion reconstruction. This case report is an account of the various treatment carried out to reconstruct the lip. It was done with co-operation of the ENT department. Key words: Recurrent squamous cell carcinoma, Gillies fan flap, Deltopectoral flap, Delay of flaps doi: 10.3126/kumj.v6i3.1715 Kathmandu University Medical Journal (2008), Vol. 6, No. 3, Issue 23, 375-378

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1q44 microdeletion syndrome: A new case with potential additional features

Romanian Journal of Medical Practice ◽

10.37897/rjmp.2021.1.16 ◽

2021 ◽

Vol 16 (1) ◽

pp. 92-96

Author(s):

Elena-Silvia SHELBY ◽

◽

Tanser HUSEYINOGLU ◽

Georgeta CARDOS ◽

Liliana PADURE ◽

...

Keyword(s):

Developmental Delay ◽

Grey Matter ◽

Chromosome 1 ◽

Global Developmental Delay ◽

Microdeletion Syndrome ◽

Genetic Syndrome ◽

Skeletal Involvement ◽

Craniofacial Dysmorphism ◽

Prenatal Hydronephrosis ◽

One Year

1q44 microdeletion syndrome (1q44 monosomy) is a newly described genetic syndrome characterized by the haploinsufficiency of a 6 Mb locus on the long arm of chromosome 1. The main features are global developmental delay, seizures, hypotonia and craniofacial dysmorphism. With a prevalence below one in a million cases, this syndrome is very rare and, hence, often passes undiagnosed. We present the case of a one year old girl admitted to our hospital with global developmental delay and several congenital abnormalities suggesting a plurimalformative syndrome. Microarray analysis detected a 967 kb deletion in the 1q44 region as well as a a 530 kb microduplication in the 14q31.1q31.2 region, the latter having unknown clinical significance as it contains no currently known OMIM genes. The patient’s phenotype was in accordance to 1q44 microdeletion syndrome. Furthermore, after studying the 1q44 microdeletion syndrome cases reported so far in the literature, we have noticed that our patient presented previously undescribed features of this syndrome, namely prenatal hydronephrosis, bifid hallux and grey matter heterotopy. Based on the cerebral, renal and skeletal involvement in 1q44 microdeletion syndrome, we suspect these might be additional, previously unreported features of 1q44 microdeletion syndrome.

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Isolated lichen planus of the lips: cases reports and literature review

Journal of Oral Medicine and Oral Surgery ◽

10.1051/mbcb/2020001 ◽

2020 ◽

Vol 26 (2) ◽

pp. 14

Author(s):

Maroua Garma ◽

Wafa Hasni ◽

Bechir Annabi ◽

Badreddine Sriha ◽

Souha Boudegga ◽

...

Keyword(s):

Case Report ◽

Literature Review ◽

Histological Examination ◽

Lichen Planus ◽

Case Reports ◽

Dermatology Department ◽

Lower Lip ◽

Therapeutic Modalities ◽

Rare Lesion ◽

Male Patients

Introduction: Lichen planus is an inflammatory mucocutaneous dermatosis involving skin, appendages and mucosa. Oral mucosa is the most commonly involved in all its sites, rarely the lips especially when isolated. The aim was to conduct a literature review about isolated lichen planus of the lips and reporting two case reports of this lesion in order to highlight epidemiologic, clinical and histological features and therapeutic modalities of this lesion. Observations: Case report 1: a 34-year-old diabetic male patient consulted for an erosive, crusted and hemorrhagic cheilitis of the lower lip. Clinical and histological examination led to the diagnosis of isolated lichen planus of the lips. Case report 2: a 33-year-old female patient was referred from dermatology department for biopsy of chronic cheilitis of the lower lip. Clinical and histological examination confirmed the diagnosis of isolated lichen planus of the lips. Discussion: The review based on 34 case reports of isolated lichen planus of the lips, in addition to literature data confirmed that it is a benign rare lesion affecting mostly male patients having middle age with preponderance of the lower lip, its erosive form is the most frequent and it presents a favorable healing with topical treatment particularly corticosteroids.

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