Dubowitz syndrome (DubS) is a rare condition characterized by a range of medical challenges, including distinctive facial features and complications affecting the ocular, dental, dermatological, skeletal, cardiovascular, gastrointestinal, neurological, immunological, and hematological systems. This syndrome results from multiple gene mutations and is inherited in an autosomal recessive manner. The purpose of this article is to detail the multidisciplinary approach required to address the various clinical and social aspects of the syndrome. We present the case of a male Mexican patient diagnosed with DubS based on clinical features, particularly the characteristic facial appearance, despite inconclusive genetic testing. He displayed an average intellectual level but experienced behavioral issues, alongside ocular, dental, cutaneous, musculoskeletal, gastrointestinal, and hematological alterations. The patient received comprehensive care from a multidisciplinary team, including specialists in plastic and reconstructive surgery, pediatrics, psychology, genetics, nutrition, orthodontics, ophthalmology, stomatology, and phoniatrics. This collaborative approach resulted in positive functional and behavioral outcomes. Additionally, we conducted a review of the literature, noting that there are currently no established treatment guidelines. A thorough multidisciplinary strategy for patients with DubS can lead to improved esthetic and functional results, as well as enhanced social skills and self-esteem. Approximately 1% of 25,000 genes and 25 million single-nucleotide polymorphisms in the genome of modern humans are epilepsy variants. Epilepsy variants are the molecular basis of fatal progressive myoclonus epilepsies, epileptic encephalopathies, and other genetic epilepsies. This chapter annotates the early success and key turning points in the quest to cure fatal epilepsies. The first key turning point occurred in 2018 when “every-2-weeks” intraventricular infusion of cerliponase alfa, enzyme replacement therapy, halted progression of an early childhood progressive myoclonus epilepsy (CLN2 Batten disease), as reported by Schulz et al. In 2021, Schaeffer et al. reported 2 years of intraventricular cerliponase alfa delayed or prevented onset of symptoms in presymptomatic CLN2 infants. Earlier, in 2017, the Food and Drug Administration (FDA) and European Medicines Agency approved Nusinersen, an antisense oligonucleotide, and AVXS-101 (Zolgensma), a viral-mediated gene replacement therapy, as disease halting and potential cures for Werdnig Hoffmann type I spinal muscular atrophy of infancy (SMN1). Even now, breakthrough advances by others include (1) ex vivo HSPC transduction gene therapy in metachromatic keukodystrophy, and (2) genome editing with zinc finger nuclease opening DNA strands and inserting a correct alpha-L-iduronidase into the genome of Hurler mucopolysaccharidoses patients. Recently, the FDA proclaimed that they expect to approve 10–20 cell and gene therapies a year from 2025 onward. As clinical trials raise hopes for cures, vigilance for adverse effects and ethical concerns must not waiver.

Dubowitz syndrome (DS) is a rare genetic disorder characterized by multiple morphological abnormalities, short stature, and different degrees of mental disability. Endocrinological evaluation should be done for these subjects, as they can suffer from multiple hormonal derangements. We present a case of a 12-year-old Lebanese girl, diagnosed with Dubowitz syndrome, who presented to our clinic for short stature. She had received growth hormones (GHs) and improved her height. More investigations showed the presence of Hashimoto thyroiditis with normal thyroid stimulating hormone, so hormonal follow-up was recommended. The association between Dubowitz syndrome and Hashimoto thyroiditis has not been described so far. Thus, in the setting of this syndrome, it is worthwhile to check for growth hormone deficiency and Hashimoto's thyroiditis.

Pyoderma gangrenosum (PG) is a challenging cutaneous manifestation associated with Dubowitz syndrome, a rare genetic disorder characterized by multiple congenital anomalies, developmental delay, and distinctive facial features. This review article aims to provide a comprehensive overview of the association between Dubowitz syndrome and pyoderma gangrenosum, emphasizing the clinical presentation, challenges in diagnosis and management, and potential underlying mechanisms. A comprehensive literature search was conducted to gather relevant studies, and inclusion and exclusion criteria were applied to select appropriate articles. The association between Dubowitz syndrome and pyoderma gangrenosum has been documented in reported cases and studies. Clinical characteristics of Pyoderma gangrenosum in Dubowitz syndrome include painful necrotic ulcers with undermined borders. Diagnosing pyoderma gangrenosum in the context of Dubowitz syndrome can be challenging due to the overlapping clinical features and complexities associated with the syndrome. Managing pyoderma gangrenosum involves a multidisciplinary approach, with general principles of wound care, systemic therapy, and pain management. Specific considerations for treating pyoderma gangrenosum in Dubowitz syndrome include collaboration among specialists and careful monitoring. Future directions for management include further research to understand the underlying mechanisms and develop targeted therapies. Recognizing and addressing pyoderma gangrenosum in Dubowitz syndrome is crucial for optimal patient care. This review enhances awareness among healthcare professionals and provides insights for improving diagnosis, management, and treatment outcomes for individuals with this challenging combination of conditions.

Dubowitz syndrome is a rare genetic disease with only a few cases reported in the literature. It is characterized by growth retardation, microcephaly, facial dysmorphism and higher risk of developing cancer and cardiomyopathies. PG is an autoinflammatory disorder that causes painful ulcers to develop on the skin and has not been previously associated with Dubowitz syndrome. The authors report the case of a 50-year-old female with Dubowitz syndrome who developed painful ulcerative lesions. An incisional biopsy was performed to rule out other diagnoses, and a subsequent clinical diagnosis of PG was made. The patient was treated with specialized wound dressings and oral glucocorticoids. The clinical picture improved consistently after 7 weeks of therapy. This case report, to the authors' knowledge, is the first to suggest a possible association between Dubowitz syndrome and PG and also to indicate an effective treatment.

Oligodontia is a dental abnormality in which the patient is missing teeth. It is a hereditary disorder characterized by agenesis of more than six primary or permanent teeth, excluding the wisdom teeth. Oligodontia is often related with an abnormal size of teeth, conical shape, taurodontism, frequent enamel abnormalities, and delayed eruption. Oligodontia may be clinically isolated or associated with ectodermal dysplasia, a large group of rare diseases, and other syndromes. Patient Information. Dental characteristics of a six-and-a-half-year-old Moroccan boy with oligodontia and in apparent good health were described. Clinical Findings. Three syndromes associated with oligodontia have been discussed. Above all, based on the facial phenotype, Dubowitz syndrome has been retained as the most likely diagnostic hypothesis. This case could be the first reported case described in Morocco, but a thorough examination with genetic analysis must be carried out. Oligodontia could clinically be isolated or associated with ectodermal dysplasia, a large group of rare diseases, and other syndromes.