An extremely rare presentation of Zimmermann–Laband syndrome in a twin

Reddy, Manjunath; Mehetre, Vijay; Gir, Priyadarshani Jayprakash; Ranmare, Varsha

doi:10.4103/ams.ams_203_17

Cited by 3 publications

References 2 publications

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Zimmermann–Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth—A case report of a novel KCNN3 gene variant

Schwarz

Ryba

Křepelová

et al. 2021

American J of Med Genetics Pt A

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Zimmermann-Laband syndrome is a rare, heterogeneous disorder characterized by gingival hypertrophy or fibromatosis, aplastic/hypoplastic nails, hypoplasia of the distal phalanges, hypertrichosis, various degrees of intellectual disability, and distinctive facial features. Three genes are considered causative for ZLS: KCNH1, KCNN3, and ATP6V1B2. We report on a pair of female concordant monozygotic twins, both carrying a novel pathogenic variant in the KCNN3 gene, identified using exome sequencing. Only six ZLS patients with the KCNN3 pathogenic variant have been reported so far. The twins show facial dysmorphism, hypoplastic distal phalanges, aplasia or hypoplasia of nails, and hypertrichosis. During infancy, they showed mild developmental delays, mainly speech. They successfully completed secondary school education and are socio-economically independent. Gingival overgrowth is absent in both individ-

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Zimmermann–Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth—A case report of a novel KCNN3 gene variant

Schwarz

Ryba

Křepelová

et al. 2021

American J of Med Genetics Pt A

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Zimmermann-Laband syndrome and infantile systemic hyalinosis: an enigma with two separate terms with overlapping features: a case report

Owlia,

Navabazam,

akhavan-karbasi

et al. 2023

BMC Pediatr

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Background Zimmermann-Laband Syndrome (ZLS) and infantile systemic hyalinosis (ISH) are rare genetic disorders. They are characterized by various spectrum manifestations. In spite of other case reports, this case with features of both syndromes was reported by oral medicine specialists and oral and maxillofacial surgeons. Case presentation In this study, we reported an 18-months old female patient with gingival overgrowth. This phenomenon completely embedded all the erupted teeth. In this case, the presence of multiple papulonodular cutaneous lesions is a newly observed aspect that has rarely been reported in the existing literature. Gingival overgrowth was excised under general anesthesia. At six months of follow-up after surgery, mastication and breathing problems were improved. Aesthetic aspects were ameliorated in terms of gingival appearance. Conclusions To date, due to the ambiguous presentations, both syndromes remain an enigma for specialists. A timely diagnosis could be crucial for prognosis and preventing severe further surcharge. Dentists could play an important role in the diagnosis of rare disorders.

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Zimmermanne Laband syndrome and infantile systemic hyalinosis: an enigma with two separate terms with overlapping features: case report and literature review

Owlia

Navabazam

Akhavan-Karbasi

et al. 2022

Preprint

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Background Zimmermann-Laband Syndrome (ZLS) and infantile systemic hyalinosis (ISH) are extremely rare genetic disorders characterized by various spectrum manifestations. In spite of other case reports, this case has been reported by oral medicine specialists and oral and maxillofacial surgeons with overlapping features of both syndromes. Case presentation In this study, we reported a 2-year-old female patient with gingival growth and brought about embedded erupted teeth in both jaws. The new aspect of this case report attributed to multiple papulo-nodular skin lesions barely reported by a kind of literature. Surgical excision was performed under general anesthesia. At six months of follow-up after surgery, mastication, and breathing problems were significantly improved. Aesthetic in terms of gingival appearance was ameliorated. Conclusions Although both syndromes remain an enigma for specialists to date because of their ambiguous presentations, the timely diagnosis could be crucial for prognosis and prevention of further serious surcharge. Dentists could have an important role in the diagnosis of rare disorders.

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An extremely rare presentation of Zimmermann–Laband syndrome in a twin

Cited by 3 publications

References 2 publications

Zimmermann–Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth—A case report of a novel KCNN3 gene variant

Zimmermann–Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth—A case report of a novel KCNN3 gene variant

Zimmermann-Laband syndrome and infantile systemic hyalinosis: an enigma with two separate terms with overlapping features: a case report

Zimmermanne Laband syndrome and infantile systemic hyalinosis: an enigma with two separate terms with overlapping features: case report and literature review

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