Hallermann-Streiff Syndrome in Concordant Monozygotic Twins With Congenital Cataracts, Exudative Retinal Detachments, and One Case of Corneal Perforation Requiring Keratoplasty.

PURPOSE: We describe the management of Hallermann-Streiff syndrome in monozygotic female twins with congenital cataracts, exudative retinal detachments, and 1 case of corneal descemetocele with associated dellen and subsequent perforation. METHODS: This study was a case report and review of the literature. RESULTS: Twins 1 and 2 exhibited all 7 cardinal characteristics of Hallermann-Streiff syndrome, presenting with spontaneous lenticular resorption, anterior uveitis, and glaucoma. They underwent bilateral cataract extraction with near total capsulectomy. Both twins experienced recurrent glaucoma, for which twin 1 underwent successful endocyclophotocoagulation in both eyes and twin 2 in the left eye alone. The fellow eye developed 2 sites of perilimbal corneal descemetoceles with associated dellen at the inferotemporal limbal corneal junction leading to spontaneous perforation of 1 site, requiring a full-thickness corneal graft. Both twins developed recurrent bilateral exudative retinal detachments unresponsive to oral prednisolone. Twin 1's last best-corrected visual acuity with aphakic spectacles was 20/260 in the right eye and 20/130 in the left eye at age 4 years and 8 months. Twin 2's last best-corrected visual acuity was 20/130 in each eye at age 4 years and 11 months, over a year after right eye penetrating keratoplasty. CONCLUSIONS: We describe 2 rare cases of Hallermann-Streiff syndrome in monozygotic twins complicated by corneal perforation requiring penetrating keratoplasty in 1 eye of 1 twin. Although corneal opacities have been described in this condition, this is the first case of corneal descemetocele in Hallermann-Streiff syndrome. The cornea was stabilized with a relatively favorable visual outcome over 1 year later.

Hallermann Streiff syndrome: Cranio-facial manifestations systematic review and report of two cases.

Hallermann Streiff syndrome (HSS) is a rare congenital abnormality with about 200 case reports in the literature. Its etiology is unknown although it may be due to a sporadic mutation. Diagnosis is based on the association of craniofacial malformation, dental abnormalities, hypotrichosis, atrophy of the skin, proportionate nanism, congenital cataract and bilateral microphtalmos. Cranio-facial deformities are the main signs detected and the most easily recognizable. We report cranio-facial and oral signs from a systemic literature review, and illustrate our findings with two of our patients diagnosed with HSS. Common cranio-facial manifestations are craniofacial malformation with a « parrot beak ¼ nose, micrognathia, aprominent skull, sutures closing anomaly, malocclusion, dental anomalies, eyebrows and eyelash lack and atrophy of the nose skin. Knowledge of these signs should allow for early diagnosis and adequate treatment and follow up.

Diagnosis, Early Care, and Treatment of Hallermann-Streiff Syndrome: A Review of the Literature.

Hallermann-Streiff syndrome is a rare congenital disorder characterized by a wide spectrum of craniofacial abnormalities. A review of the available literature reveals that only approximately 200 cases of the disease have been reported worldwide. For this article, we performed a literature review as a basis for a proposed scheme for early care and treatment. A comprehensive database search was carried out with the use of Medline (PubMed), ISI Web of Science, and ScienceDirect/Scopus. Of the 551 studies initially found, an evaluation using inclusion and exclusion criteria ultimately resulted in a total of 33 articles. Most of the articles are case reports, and only approximately 20% of these articles include treatment options. We propose an early care and treatment schedule based on the presented symptoms. [Pediatr Ann. 2021;50(5):e227-e231.].

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology.

Members of the chromodomain-helicase-DNA binding (CHD) protein family are chromatin remodelers implicated in human pathologies, with CHD6 being one of its least studied members. We discovered a de novo CHD6 missense mutation in a patient clinically presenting the rare Hallermann-Streiff syndrome (HSS). We used genome editing to generate isogenic iPSC lines and model HSS in relevant cell types. By combining genomics with functional in vivo and in vitro assays, we show that CHD6 binds a cohort of autophagy and stress response genes across cell types. The HSS mutation affects CHD6 protein folding and impairs its ability to recruit co-remodelers in response to DNA damage or autophagy stimulation. This leads to accumulation of DNA damage burden and senescence-like phenotypes. We therefore uncovered a molecular mechanism explaining HSS onset via chromatin control of autophagic flux and genotoxic stress surveillance.

Implant-Supported Maxillary and Mandibular Rehabilitation in a Patient With Hallermann-Streiff Syndrome.

ABSTRACT: Hallermann-Streiff syndrome is a rare congenital abnormality involving multiple craniofacial malformations, such as micrognathia, prominent frontal and nasal bones, vision defects, and dental anomalies. In most patients, patients affected with this disease have multiple dental problems involving a severe loss of teeth and maxillary atrophy. Specialized individual and multidisciplinary treatments are often required in these patients. The objective of this report was to demonstrate the rehabilitation approach of a patient with Hallermann-Streiff syndrome using total implant-support prostheses, with optimal aesthetic and functional results, which significantly improved the patient's quality of life.

Hallermann-Streiff syndrome with uncommon ocular features, ultrasound biomicroscopy and optical coherence tomography findings: A case report.

RATIONALE: Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by craniofacial malformations, sparse hair, degenerative skin changes, eye abnormalities, dental defects, and proportionate short stature. PATIENT CONCERNS: A 24-year-old Chinese male patient presented to the ophthalmologist because of his sore eye and blurred vision. DIAGNOSES: The final diagnosis of presented case is HSS having the main features of the syndrome, however, associated with uncommon ocular features, ultrasound biomicroscopy (UBM) and optical coherence tomography (OCT)changes, including aphakia, glaucoma, long eye axes, cilliary abnormalities, and chorioretinal atrophy. INTERVENTIONS: Antiglaucomatous medical therapy failed to reduce the pressure in the right eye and a cyclocryotherapy was carried out. The antiglaucoma eye drops was continued in the left eye. OUTCOMES: The intraocular pressure has been reduced to the normal range, but the vision has not improved. LESSONS: In the diagnosis of HSS, we should not ignore the extraordinary information especially uncommon ophthalmic features, UBM and OCT changes. We highlight the necessity of a multidisciplinary approach for accurate diagnosis and appropriate management.

Hallermann-Streiff syndrome: A missing molecular link for a highly recognizable syndrome.

The use of modern next-generation sequencing-based approaches for gene identification has tremendously improved our understanding of the molecular pathogenesis of the great majority of well-known syndromes, whereas only a few remain to be elucidated. Hallermann-Streiff syndrome is such a disorder for which the molecular basis is still unknown although it represents a highly recognizable phenotype. Clinically, patients with Hallermann-Streiff syndrome show typical craniofacial dysmorphism, eye malformations, a distinctive facial appearance, abnormalities of hair and skin, short stature, and, interestingly, they might also present with aspects of premature aging. The clinical diagnosis is mainly given by the very typical facial gestalt of patients. In this review, we (a) summarize the current knowledge on the phenotypic traits, focusing on described classic cases, (b) discuss the missing molecular link, and (c) present innovative future strategies for gene identification.

Diagnosis and Innovative Multidisciplinary Management of Hallermann-Streiff Syndrome: 20-Year Follow-Up of a Patient.

Hallermann-Streiff syndrome (HSS) is a rare congenital disorder that mainly affects head and face development. We described the different patterns of the disease throughout the whole growth period and provided innovative treatment steps. Indeed, early genioplasty and dental implantation before growth completion were performed. These steps allowed to improve facial growth and to provide orthodontic anchorage, respectively. Complementary orthognathic surgery achieved satisfactory occlusion and refined aesthetics. We believe such an approach could be considered as a relevant treatment modality to complete multidisciplinary care in patients with HSS.

EXUDATIVE RETINAL DETACHMENT CAUSED BY A CHOROIDAL NEOVASCULAR MEMBRANE IN HALLERMANN-STREIFF SYNDROME.

PURPOSE: To report a case of exudative retinal detachment caused by a choroidal neovascular membrane in Hallermann-Streiff syndrome. METHODS: The authors report a 7-year-old white male with Hallermann-Streiff syndrome who developed exudative retinal detachments secondary to choroidal neovascular membrane that resolved after off-label use of intravitreal injections of bevacizumab 1.25 mg. CONCLUSION: Patients with Hallermann-Streiff syndrome and exudative retinal detachment present with choroidal neovascular membrane can respond well with intravitreal injections of anti-vascular endothelial growth factor.

Ophthalmologic manifestations of Hallermann-Streiff-Francois syndrome: report of four cases.

PurposeHallermann-Streiff-Francois syndrome (HSS) is a rare genetic disorder characterised by ocular and craniofacial anomalies. The purpose of this report is to highlight the ophthalmological features in four such patients and outcomes of cataract surgery.Patients and methodsRetrospective review of medical records of patients with cataract and/or microcornea due to HSS was done. Presenting features, ocular findings, ocular motility and visual outcomes were noted.ResultsWe identified four children with microcornea/cataract who had associated clinical features suggestive of HSS. Mean age at presentation was 25.5±27.8 months. Three children presented with poor vision in both eyes and one with strabismus. All patients had a microcornea and microphthalmos. Three patients had a membranous cataract. Horizontal corneal diameter ranged from 5.5 to 10.5 mm and axial length ranged from 12 to 18 mm. Three patients had associated strabismus. Three patients underwent lens extraction and two underwent strabismus surgery. Best corrected visual acuity (BCVA) improved from fixing, following light to a median post-operative BCVA of 20/380. One eye developed retinal detachment.ConclusionChildren with HSS present with membranous cataracts, microcornea and microphthalmos and present surgical challenges. Though the patients were mostly left aphakic, all showed moderate visual improvement.

Treatment of the nasal abnormalities of Hallermann-Streiff syndrome by lipofilling.

Hallermann-Streiff syndrome (HSS) is a rare congenital abnormality affecting mostly the head and face area. Craniofacial deformities, which are present in 98-99% of cases, are the principal abnormalities detected. We focus here on a particular subset of these deformities: atrophy of the skin of the centre of the face and nose. Two patients diagnosed with HSS were treated in our department. Both patients underwent nasal lipofilling to treat the atrophy of the nasal skin, as described by Nguyen et al. In both cases, a satisfactory improvement in nasal skin colour and texture was observed. A functional gain was also reported by the parents and observed during follow-up consultations. Lipofilling thus appears to be an excellent option for treating craniofacial deformities in children.

Comprehensive dental management in a Hallermann-Streiff syndrome patient with unusual radiographic appearance of teeth.

Hallermann-Streiff syndrome (HSS) is a genetic disorder characterized by proportionate dwarfism, birdlike facies, hypotrichosis, skin atrophy, dyscephaly, bilateral microphthalmia, congenital cataracts, a narrow, weak, beaked nose, a hypoplastic mandible, and orodental anomalies. Occurrence is sporadic and distinct patterns of inheritance have not been found. This case report describes the dental management of a 3-year-old girl patient with HSS, who had unusual radiographic appearance of teeth. Furthermore, dental treatments and a 30-month follow-up period of the patient with this rare tooth structure malformation have been presented.

Generalized odontodysplasia in a 5-year-old patient with Hallermann-Streiff syndrome: clinical aspects, cone beam computed tomography findings, and conservative clinical approach.

This article aims to report the main clinical aspects, cone beam computed tomography (CBCT) findings, and conservative oral rehabilitation in a child born from a consanguineous marriage who presented with Hallermann-Streiff syndrome (HSS) and generalized odontodysplasia. A 5-year-old girl presented with a diagnosis of HSS for oral evaluation. Radiographically, all teeth showed wide pulp chambers and roots with thin dentinal walls and open apices, resembling ghost teeth and indicating a diagnosis of odontodysplasia. Oral rehabilitation consisted of partial dentures that were regularly adjusted to conform the device with the pattern of growth and development of the child. CBCT scan provided great insight into HSS, allowing a detailed view of the morphologic aspects and associated trabecular bone pattern. Treatment of these 2 rare conditions in young children must consider the stage of growth and development. Although extremely rare in HSS, odontodysplasia should be investigated and conservatively managed in young children.

Report on ocular biometry of microphthalmos, retinal dystrophy, flash electroretinography, ocular coherence tomography, genetic analysis and the surgical challenge of entropion correction in a rare case of Hallermann-Streiff-Francois syndrome.

PURPOSE: To report new aspects of the phenotype including Retinal dystrophy and surgical challenges in Hallermann-Streiff Francois syndrome (HSFS). METHODS: Detailed phenotype of a female with HSFS was evaluated including skeletal changes, comprehensive eye examination, detailed ocular biometry, electroretinography and macular Ocular coherence tomography. Surgical notes of lid surgery for entropion were reviewed. Genetic screening was also done. RESULTS: Unique Ocular biometry with electroretinography changes, macular folds and fundus changes suggestive of an unreported Retinal dystrophy in a typical patient with HSFS were noted. Surgery was challenging both due to difficulty in endotracheal intubation anaesthesia because of the dento-facial abnormalities and the skin fragility. CONCLUSION: This report provides additional information especially pigmentary retinal dystrophy, macular folds and electroretinography in HSFS. The microphthalmos had overlapping posterior segment findings usually reported with Nanophthalmos and Posterior microphthalmos. The surgical difficulties and outcomes of the rarely encountered adnexal abnormalities emphasize the need for a multi disciplinary approach for appropriate management.