Congenital dermatological diseases (CDD) encompass defective structures or deformities evident at birth. Inherited dermatoses include conditions linked to the transmission of genetic variation between generations [1]. They may be congenital or may emerge later in life. These conditions encompass a wide range of severities, ranging from mild cosmetic issues to life-threatening diseases. Their impact on quality of life [2] and healthcare systems [3] underscores the need for continued research and effective clinical management. CDD can be grouped based on its cause and clinical phenomena. Genodermatitis is an abnormal condition associated with genetic mutations [4, 5]. Genetic disorders manifest in the skin, such as epidermolysis bullosa and ichthyosis vulgaris, which interfere with filaggrin (FLG) mutations and neurofibromatosis, which has features such as café-au-lait spots and systemic symptoms [6, 7, 8, 9]. Genetic defects include albinism, which affects melanin synthesis, and tuberous sclerosis complex (TSC), including hypopigmented macules, angiofibromas, and neurological deficiencies [10].

Another important category is vascular malformations, which are deformities of blood vessels that lead to colour changes in the skin [11]. These include congenital states such as port-wine stains, which are classified as pink to red flat birthmarks, hemangiomas, or benign vascular tumours [12]. Correspondingly, pigmentary phenomena that disturb melanin distribution or synthesis include congenital melanocytic nevi and café-au-lait spots, which are most commonly observed in neurofibromatosis [13, 14]. Connective tissue disorders include increased weakness in skin elasticity or structural integrity, such as Ehlers-Danlos syndrome (EDS), which is characterised by hyperelastic skin and poor wound healing, and cutis laxa, which is marked by loose or wrinkled skin due to defective elastic fibres. Inflammatory, infectious, or autoimmune conditions include lupus-like manifestations in children, exhibiting butterfly-like annular erythematous lesions; congenital erythroderma, which presents with generalized erythema and scaling; keratinization disorders such as palmoplantar keratoderma, which results from keratin or related protein defects causing thickened skin on the palms and soles; and congenital pachyonychia, which thickens the nails and causes keratotic plaques [15, 16, 17].

Congenital dermatological disorders affect social status and economic conditions and have psychological effects [18]. Such lesions adversely influence activities of daily living due to stigma, contributing to an increased healthcare burden [19]. Management includes dermatological treatment, involvement of geneticists and paediatricians, and the financial costs of ongoing medications and surgical procedures. Recent evidence has highlighted improvements in the diagnosis and management of these conditions [20]. Some key genes known to cause skin disorders, such as FLG and TSC1/TSC2, have enabled the development of targeted treatments, such as Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) gene therapy and protein replacement therapy [21]. Notable progress has been made in barrier repair and skin symptom-targeting formulations [22].

Despite advancements in CDD over the last three decades, no previous study has systematically analysed the bibliometric characteristics of this field. This study addresses this gap by providing the first comprehensive bibliometric analysis to map global research trends, collaborative networks, and knowledge gaps in CDD research. Unlike previous dermatology-related bibliometric studies [23, 24, 25], this study employed a multistage theme evolution analysis, offering deeper insights into the progression of research priorities and emerging topics. Such an analysis is crucial for identifying prolific authors, institutions, funding sources, and high-impact research areas, thus forming a foundation for future investigations and policymaking. Given that CDD intersects with genetic, developmental, and systemic health issues, this study provides a multidisciplinary perspective that enhances its significance in advancing clinical and scientific knowledge.

This study aimed to present a systematic bibliometric analysis of research on CDD over the past three decades. Its strength lies in its use of two powerful analytical methods to examine data-driven research (original papers), thereby guaranteeing strong and comprehensive findings. Data were obtained from Scopus, the largest academic database, using a strict multistep search approach. No previous bibliometric analysis has addressed this issue. This study is consistent with its predecessors in utilising novel research methodologies to delineate research landscapes across several disciplines [38, 39].

The significant increase in CDD research, with 17,984 publications from 1995 to 2024, and an annual growth rate of 3.28% (Fig. 2), highlights the growing importance of these genetic disorders in scientific and clinical research. Most publications (47.78%) were published during the last decade (2015–2024), reflecting the accelerating advancements in genomics [40], diagnostics [41], and treatment approaches [34]. This trend aligns with the bibliometric findings in other genetic diseases, where innovations such as whole-exome sequencing [42], RNA sequencing [43], and bioinformatics [44] have significantly driven the research. The relatively young average age of publications (11.6 years) further underscores the sustained scholarly engagement with recent breakthroughs. This growth highlights the critical role of genetic research in optimising diagnoses, advancing treatment strategies, integrating precision medicine into clinical care, and strengthening global funding initiatives for CDD research.

China’s substantial productivity in researching CDD is juxtaposed with an average citation rate of only 8.70. This disparity could stem from a concentration on regional research, a lack of international collaboration, and a selective choice of journals. Numerous studies have focused on local clinical cases or epidemiological studies that cannot be easily generalised. Furthermore, citation impact is reduced by lower levels of high-impact international publications and contributions to regional journals. Establishing global partnerships, encouraging multidisciplinary collaboration, and publishing in high-impact journals should be prioritised to improve research impact. Adopting an open-access publication model and applying additional translational approaches can enhance the profile and citation impact of CDD research in China. This analysis aligns with a prior investigation, indicating that China varies in terms of both the output and influence of research [24].

DH Gutmann (Washington University), the most productive researcher in the field of CDD, contributed significantly to our understanding of neurofibromatosis and related disorders. His highly cited works include research on the role of Neurofibromatosis Type 1 (NF1) in astrocytoma formation and hyperactivation of the mTOR pathway in NF1-associated brain tumours. He has co-authored international consensus statements on malignant peripheral nerve sheath tumours and revised the diagnostic criteria for neurofibromatosis type 1 and Legius syndrome. His studies have also focused on visual outcomes in children with NF1-associated optic pathway gliomas, the regulation of neuronal and glial cell differentiation by NF1, and the role of TSC genes in epilepsy, including the potential of rapamycin as a preventive therapy [40, 41, 45, 46, 47, 48, 49, 50, 51].

The top-cited document in this analysis addresses the pivotal evolution of the classification system for EDS, highlighting its significant impact on the field [28]. Initially categorised in the late 1960s using the Berlin nosology, the classification criteria were formalised in 1988. However, these criteria are insufficient to distinguish between various EDS subtypes and other phenotypically similar conditions. Advances in understanding the molecular basis of several EDS types have prompted a major revision of the classification system. This revised framework emphasises the underlying causes of each type, incorporating major and minor diagnostic criteria, along with laboratory findings. By simplifying the diagnostic process, this classification system enhances accuracy and aids in distinguishing EDS from related disorders, thereby fostering improved clinical management and research efforts. Its influence is underscored by its position as the most cited document, reflecting its transformative role in shaping the understanding and diagnosis of EDS.

The second most-cited document [33] in this analysis focused on the critical role of the phosphoinositide 3-kinase-protein kinase B (PI3K-Akt) pathway in regulating cellular processes, particularly its relationship with the TSC2 gene product tuberin. Using a combination of biochemical and bioinformatics analyses, tuberin was identified as a substrate for PI3K-dependent serine/threonine kinases. This study demonstrated that upon PI3K activation, tuberin is phosphorylated at consensus recognition sites for Akt/PKB in vitro and in vivo, with key phosphorylation sites such as serine 939 (S939) and threonine 1462 (T1462) being PI3K-regulated. Notably, T1462 is constitutively phosphorylated in phosphatase and tensin homolog (PTEN)-deficient tumour cell lines. Additionally, a tuberin mutant lacking these phosphorylation sites blocked S6 kinase 1 (S6K1) activation, revealing a regulatory mechanism through which the PI3K-Akt pathway modulates S6K1 activity. This groundbreaking study highlights the molecular interplay between PI3K-Akt signalling and the mTOR pathway, significantly advancing our understanding of tumour biology and the molecular underpinnings of the TSC. Its impact is reflected in its high citation count and influence on subsequent research in this area.

Research on CDD has evolved over the years to show clear changes in focus. Although they became less prevalent in the following years, genodermatosis, ichthyosis, liver disease, and mutations dominated the period from 1995 to 2004. The emphasis shifted from 2005 to 2015 to incorporate newly developing issues such as propranolol and EDS, which were lacking in earlier and later years. Reflecting developments in subtypes and targeted therapies not addressed in previous decades, the most recent decade (2016–2024) has brought a renewed focus on propranolol and increased emphasis on neurofibromatosis types 1 and 2. These changes demonstrate the evolution of dynamic research priorities in response to clinical and scientific progress. Topics including genodermatosis, ichthyosis, liver, and mutations faded after 2004, reflecting a natural shift in research focus. Early studies concentrated on basic findings and genetic linkages; however, as genetic understanding advanced, more in-depth research into specific diseases (such as EDS and neurofibromatosis) was conducted [41, 51]. Themes such as mutations have been integrated into specialised research, whereas technologies such as whole-exome sequencing [52] and therapies such as propranolol have redirected interest towards actionable treatment strategies [53], thus reducing the focus on broader exploratory themes.

Research on thematic mapping points out various areas that require attention. Topics such as albinism and oculocutaneous albinism lack modern attention, raising concerns about long-term care and psychological effects. Niche conditions such as vestibular schwannoma and neurofibromatosis type 2 remain understudied, especially with regard to novel treatments and systemic consequences. Further research on biological pathways, biomarkers, and management techniques is needed for Emerging Themes such as EDS. Although modern therapeutics such as mTOR inhibitors and propranolol are key to Motor Themes, the integration of cutting-edge technologies such as CRISPR and personalised medicine remains limited. Moreover, thorough quality-of-life research is required across all diseases to improve psychosocial outcomes and support patient-centred care.

As shown in Fig. 7, dupilumab is a popular drug for CDD. Dupilumab is a monoclonal antibody that targets the alpha component of the interleukin-4 (IL-4) receptor, inhibiting the IL-4 and interleukin-13 (IL-13) pathways, thereby obstructing key mediators of type 2 inflammation. Primarily utilised for moderate-to-severe atopic dermatitis in both adults and children, it significantly alleviates itching and inflammation, enhances skin barrier function, and presents a safer alternative to systemic immunosuppressants such as corticosteroids. Among several inflammatory dermatological conditions, bullous pemphigoid and chronic spontaneous urticaria have novel applications. It enhances epithelial integrity, diminishes type 2 inflammation, and mitigates cytokine-induced skin damage by decreasing IL-4 and IL-13 levels. Demonstrating significant efficacy and an acceptable safety profile, this is a groundbreaking method for treating inflammatory dermatological conditions [54, 55, 56].

Research on the quality of life in CDD has examined the significant psychological, social, and physical effects of these lifelong disorders on patients and their families [57, 58]. Conditions such as epidermolysis bullosa, neurofibromatosis, and EDS may involve visible skin defects, chronic pain, and functional limitations, leading to stigmatisation, low self-esteem, anxiety, and depression. By complicating everyday activities, social interactions, and employment, patients may struggle financially due to ongoing medical treatment. Recent studies have emphasised the need for comprehensive patient-centred care, including social services and psychological support. Clinical studies using the quality of life measures are becoming increasingly important for assessing new treatments, highlighting the need for further research to address specific quality of life concerns across different CDD groups [57, 58].

The limitations of using a single database (Scopus) and restricting the study to English-only publications may have led to the omission of relevant non-English literature and studies indexed in other databases. This could affect the completeness of the global research on CDD. Furthermore, bibliometric analysis is inherently limited in its ability to directly evaluate clinical applicability because it emphasises publication metrics and research patterns. Future studies should include non-English literature using translation tools or multilingual collaborators and integrate multiple databases such as PubMed and Web of Science. A multi-database multilingual strategy would enhance data comprehensiveness, provide a more global perspective, and improve the ability to assess the translational relevance of research findings in clinical practice.

CDD research has expanded significantly over the past three decades, driven by advancements in genomics, innovative therapies, and interdisciplinary approaches. Changing therapeutic goals have dictated a shift from broad investigations to focused research on specific disorders, such as neurofibromatosis, EDS, and TSC. Emphasising the necessity of current technologies such as CRISPR and personalised medicine to improve therapeutic outcomes, thematic mapping has revealed research gaps, particularly in albinism and neurofibromatosis type 2. The field is evolving, as evidenced by the incorporation of new therapies such as propranolol and dupilumab into clinical practice. To improve patient outcomes, future studies should address the existing gaps, develop genetic- and cell-based treatments, and reduce global disparities in research and access to healthcare.

$\bullet$ CDD research has expanded significantly, with 17,984 publications and a 3.28% annual growth rate, driven by advancements in genomics, diagnostics, and treatment.

$\bullet$ The USA led in productivity and impact, followed by the UK, China, Japan, and Germany. Strong international collaborations exist, particularly between Europe and North America.

$\bullet$ Gutmann, Uitto, and McGrath were the top contributors with key studies focusing on molecular mechanisms, therapies, and disease classification.

$\bullet$ Research has shifted from broad studies to specific disorders such as neurofibromatosis and EDS. Knowledge gaps remain for albinism and neurofibromatosis type 2.

$\bullet$ Advances in personalised medicine, CRISPR, and targeted therapies have led to progress. Bridging research gaps, improving access to healthcare, and integrating psychosocial care remain priorities.

All data included in this study are available from the corresponding author upon reasonable request.

AA was the sole author and was responsible for the design of the work, drafting and revision of content, and approval of the version to be published. AA has participated sufficiently in the work and agreed to be accountable for all aspects of the work.

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This research received no external funding.

The author declares no conflict of interest.

Supplementary material associated with this article can be found, in the online version, at https://doi.org/10.31083/BJHM52243.