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An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report

Tan SL, Ahmad Narihan MGB, Koa AJ

BMC Pediatr, 2023 Oct 28;23(1):541.

PMID: 37898736 DOI: 10.1186/s12887-023-04376-5

BACKGROUND: Coffin-Lowry syndrome (CLS) is a rare X-linked condition with intellectual disability, growth retardation, characteristic facies and skeletal anomalies. To date, hypertriglyceridemia has not been reported in literature to be associated with CLS.

CASE PRESENTATION: Herein, we report a case of very severe hypertriglyceridemia 32 mmol/L (2834 mg/dL) detected incidentally at three months old in an otherwise well boy born late preterm with intrauterine growth restriction, when he presented with lipaemic plasma. He was later diagnosed with CLS. No pathogenic mutations were found for hypertriglyceridemia, and no secondary causes could explain his very severe hypertriglyceridemia.

CONCLUSIONS: The very severe hypertriglyceridemia in this case may appear to be a serious presentation of an unrecognised clinical feature of CLS, further expanding its phenotype.

Matched MeSH terms: Face/pathology

Fulltext Investigation of age-related facial variation among Angelman syndrome patients

Agbolade O, Nazri A, Yaakob R, Ghani AA, Cheah YK

Sci Rep, 2021 10 21;11(1):20767.

PMID: 34675349 DOI: 10.1038/s41598-021-99944-z

Angelman syndrome (AS) is one of the common genetic disorders that could emerge either from a 15q11-q13 deletion or paternal uniparental disomy (UPD) or imprinting or UBE3A mutations. AS comes with various behavioral and phenotypic variability, but the acquisition of subjects for experiment and automating the landmarking process to characterize facial morphology for Angelman syndrome variation investigation are common challenges. By automatically detecting and annotating subject faces, we collected 83 landmarks and 10 anthropometric linear distances were measured from 17 selected anatomical landmarks to account for shape variability. Statistical analyses were performed on the extracted data to investigate facial variation in each age group. There is a correspondence in the results achieved by relative warp (RW) of the principal component (PC) and the thin-plate spline (TPS) interpolation. The group is highly discriminated and the pattern of shape variability is higher in children than other groups when judged by the anthropometric measurement and principal component.

Matched MeSH terms: Face/pathology

Multiple facial seborrheic keratosis-like lesions in a young woman with epidermodysplasia verruciformis

Foong HB, Ibrahimi OA, Elpern DJ, Tyring S, Rady P, Carlson JA

Int J Dermatol, 2008 May;47(5):476-8.

PMID: 18412865 DOI: 10.1111/j.1365-4632.2008.03559.x

Matched MeSH terms: Face/pathology

Fulltext Sézary syndrome in a Malay--case report and literature review

Yuen P, Chan HL, Lee YS

Singapore Med J, 2001 May;42(5):224-7.

PMID: 11513062

Sézary syndrome is a rare form of primary cutaneous T cell lymphoma. It is a distinct systemic variant of mycosis fungoides, marked by erythroderma, lymphadenopathy and circulating cerebriform lymphocytes in the peripheral blood. We report a case of Sézary syndrome in a 61-year-old Malay man with a five-year history of indurated plaques, ulcers and tumours on the head and trunk, with characteristic findings on physical examination, skin biopsy, electron microscopy, immunophenotyping and peripheral blood film. A literature review on Sézary syndrome is presented.

Matched MeSH terms: Face/pathology*

Fulltext First report of cervicofacial lymphadenitis due to Mycobacterium haemophilum in an immunocompromised adult patient

Atiya N, Sulaiman H, Chong J, Ng KP

J Infect Dev Ctries, 2015 Mar;9(3):313-6.

PMID: 25771471 DOI: 10.3855/jidc.5208

We report the first case of an immunocompromised adult patient presenting with cervicofacial lymphadenitis due to Mycobacterium haemophilum, confirmed using hsp65 gene sequencing and line-probe assays. In resource-limited settings, especially in developing countries, appropriate culture methods and rapid molecular diagnostic tools such as hsp65 gene sequencing for identification of this organism may not be readily available. This may cause M. haemophilum infections to go unrecognised or lead to delays in diagnosis. Lack of heightened awareness about the potential for this mycobacterial species to cause infections may also contribute to possible underestimation of M. haemophilum cases in the developing world.

Matched MeSH terms: Face/pathology*

Fulltext Turner syndrome in diverse populations

Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, et al.

Am J Med Genet A, 2020 Feb;182(2):303-313.

PMID: 31854143 DOI: 10.1002/ajmg.a.61461

Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals with TS from 19 different countries were analyzed. Individuals were grouped into categories of African descent (African), Asian, Latin American, Caucasian (European descent), and Middle Eastern. The most common phenotype features across all population groups were short stature (86%), cubitus valgus (76%), and low posterior hairline 70%. Two facial analysis technology experiments were conducted: TS versus general population and TS versus Noonan syndrome. Across all ethnicities, facial analysis was accurate in diagnosing TS from frontal facial images as measured by the area under the curve (AUC). An AUC of 0.903 (p < .001) was found for TS versus general population controls and 0.925 (p < .001) for TS versus individuals with Noonan syndrome. In summary, we present consistent clinical findings from global populations with TS and additionally demonstrate that facial analysis technology can accurately distinguish TS from the general population and Noonan syndrome.

Matched MeSH terms: Face/pathology

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