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Open research questions in Genetic and rare skin diseases.

68 gap statements mined from Genetic and rare skin diseases. papers in our 4.5M-paper local library, which holds 563 papers on the topic — drawn mostly from each paper's own stated research gap, future-work, challenge and limitation notes, and its abstract. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one.

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What the literature leaves open

  • The main finding of this case is that clinical morphology alone is insufficient to distinguish VEN from other solitary verrucous lesions, such as verruca vulgaris, seborrheic keratosis, and verrucous squamous cell carcinoma.

    Adult-Onset Solitary Verrucous Epidermal Nevus Without Blaschkoid Distribution: A Clinicopathological Diagnostic Challenge · 2026 · DOI

  • While its pathophysiology involving postzygotic abnormalities remains incompletely understood, diagnosis relies on distinguishing PUL from nevus spilus and NF1 through clinical evaluation and histopathology.

    Partial Unilateral Lentiginosis: A Systematic Review of 159 Reported Cases and Diagnostic Considerations · 2026 · DOI

  • PUL represents a rare pigmentary disorder that remains underrecognized and frequently misdiagnosed due to its clinical overlap with other segmental pigmentary disorders such as nevus spilus and mosaic or NF1.

    Partial Unilateral Lentiginosis: A Systematic Review of 159 Reported Cases and Diagnostic Considerations · 2026 · DOI

  • The condition is rare and may be underreported. The diagnosis can be challenging due to the similarity with other pigmented skin lesions. The lack of awareness of the condition can lead to unnecessary diagnostic procedures.

    Cydnidae (Burrowing Bug) Pigmentation in a Non-Acral Site: Clinical and Dermoscopic Features · 2026 · DOI

  • Further controlled studies are needed to better define the therapeutic role of pentoxifylline in PPD. Larger studies are needed to fully understand the efficacy and safety of pentoxifylline in treating PPD.

    Rapid Clinical Improvement with Pentoxifylline in Pigmented Purpuric Dermatosis: A Case Report and UV-F Dermoscopy Findings · 2026 · DOI

  • There is a lack of standardized treatment protocols for PPD. The current literature on PPD is based predominantly on case reports and small case series rather than large controlled studies.

    Rapid Clinical Improvement with Pentoxifylline in Pigmented Purpuric Dermatosis: A Case Report and UV-F Dermoscopy Findings · 2026 · DOI

  • The study is limited to a single case report. The follow-up period was relatively short. The study does not provide a comprehensive review of the literature on Spitz nevi.

    A CASE OF LONG-TERM OBSERVATION OF DYNAMIC DERMOSCOPIC CHANGES IN A COMBINATION OF SPITZ AND SUTTON (HALO) NEVI IN AN ADOLESCENT · 2026 · DOI

  • The management of CMN is not standardized. There is a lack of awareness about the potential complications associated with CMN. The diagnosis and treatment of CMN can be challenging due to its variable presentation.

    Congenital melanocytic nevus Ó? What are the potential complications? · 2026 · DOI

  • The paper does not provide a comprehensive analysis of all possible complications associated with CMN. The literature survey is limited to review articles, systematic reviews, and case series published in Portuguese and English since 2010.

    Congenital melanocytic nevus Ó? What are the potential complications? · 2026 · DOI

  • The condition is rare and may be misdiagnosed. The treatment can be challenging and may not be effective in all cases. There is a lack of awareness of the condition among dermatologists.

    Non-Inflammatory Nevus Comedonicus · 2026 · DOI

  • Although clinical and genetic evidence support haploinsufficiency, the consequences of pathogenic DLG4 variants in human neurons remain poorly defined.

    Modeling and targeting haploinsufficiency in SHINE syndrome · 2026 · DOI

  • Although no standard treatment has been defined, therapy with pigment-specific lasers for cosmetic purposes can be considered11,12. It is important to note that breast hypogenesis, scoliosis, or any other findings alone are insufficient to establish a diagnosis of the syndrome5,6.

    Multiple and giant BeckerÓ?s nevus. Case report · 2026 · DOI

  • At present, the causative genes remain unidentified in a subset of patients with genedermatoses. Given the intimate connection between epidermal is regulators of cholesterol plausible biosynthesis, sterol trafficking, or sterol sensing may underlie disease in these individuals.

    Dysregulated cholesterol metabolism in genodermatoses: implications for systemic disease and therapeutic strategies · 2026 · DOI

  • Grover’s disease (GD) is an acantholytic dermatosis with a transient, persistent, or oligosymptomatic course, most often affecting Caucasian men; the etiology of the disease remains unclear.

    A case of Grover’s disease · 2026 · DOI

  • There is a lack of evidence on the optimal timing and extent of de-escalation. The paper also highlights the need for further study on clinical or biological markers that might identify suitable patients for reduced-frequency maintenance.

    Short-term disease control with alternate-day maintenance upadacitinib in refractory Hailey–Hailey disease: a case report · 2026 · DOI

  • Our case expands the spectrum of patients with GD who may benefit from dupilumab, lends further support for the role of Th2 cytokines in GD pathogenesis, and highlights eczematous inflammation as a feature warranting further study.

    Dupilumab-responsive Grover disease with concomitant eczematous dermatitis: a case report and review of 27 cases · 2026 · DOI

  • There is a lack of understanding about the incidence and characteristics of the Mongolian Spot in different ethnic groups. There is a need for more research on the spot to provide a better understanding of its incidence and characteristics.

    The Mongolian Spot · 1981 · DOI

  • The development of papillary ridges and their patterns is not fully understood. The relationship between the distribution of capillary-neurite pairs and the developing glandular folds is not well established.

    MORPHOLOGICAL EVIDENCE CONCERNING THE PROBLEM OF SKIN RIDGE FORMATION* · 1973 · DOI

  • Clinically, it classically presents as a well-circumscribed yellowish plaque, often alopecic when located on the scalp, with a smooth or verrucous surface, most commonly affecting the scalp and face, while atypical sites such as the neck, preauricular region, and auricle are rarely reported.

    A verrucous auricular plaque: A diagnostic challenge · 2026 · DOI

  • Dermoscopy has emerged as a valuable non-invasive tool for diagnosing HLP; however, sequential dermoscopic documentation spanning multiple evolutionary stages within a single patient has rarely been reported.

    Case Report: Sequential multi-stage dermoscopic evolution of hypertrophic lichen planus in a patient with varicose veins · 2026 · DOI

  • UV-induced fluorescence dermoscopy represents a valuable second-level tool to improve diagnostic accuracy and guide the pathologist in cases where standard dermoscopy and initial histology are inconclusive.

    20 | WHERE THE SUN DOESN'T SHINE, UV FLUORESCENCE DOES: DIAGNOSTIC AND THERAPEUTIC INSIGHTS OF UV-INDUCED FLUORESCENCE DERMOSCOPY IN SCROTAL POROKERATOSIS · 2026 · DOI

  • Solitary type of nevus lipomatosus cutaneous superficialis usually occurs as a single nodular lesion after the age of 20 and typical localization has not been described.

    A Case of Adult Onset Classical Type of Nevus Lipomatosus Cutaneous Superficialis · 2015 · DOI

  • Further study of the STOM::PDGFRB fusion gene and its role in xanthogranuloma. Investigation of the effectiveness of oral imatinib in treating xanthogranuloma in a larger patient population.

    Red-yellow Papules and Nodules All over the Body: A Quiz · 2026 · DOI

  • The correlation between dermoscopic and histopathological findings in verrucous epidermal nevus with epidermolytic hyperkeratosis is not well…

    Verrucous epidermal nevus with epidermolytic hyperkeratosis: Histopathological-dermoscopic correlation · 2026 · DOI

  • This is a single case, - The follow-up after transition to the alternate-day schedule was limited to 3 months, - ATP2C1 genetic testing was not available, - The case cannot determine whether further treatment reduction would maintain disease…

    Short-term disease control with alternate-day maintenance upadacitinib in refractory Hailey–Hailey disease: a case report · 2026 · DOI

Most-cited papers in Genetic and rare skin diseases.

Most recent work

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Open questions raised by papers listed on this page include: (1) While its pathophysiology involving postzygotic abnormalities remains incompletely understood, diagnosis relies on distinguishing PUL from nevus spilus and NF1 through clinical evaluation and histopathology (“Partial Unilateral Lentiginosis: A Systematic Review of 159 Reported Cases and…”, 2026); (2) The lack of awareness of the condition can lead to unnecessary diagnostic procedures (“Cydnidae (Burrowing Bug) Pigmentation in a Non-Acral Site: Clinical and…”, 2026); (3) Further controlled studies are needed to better define the therapeutic role of pentoxifylline in PPD (“Rapid Clinical Improvement with Pentoxifylline in Pigmented Purpuric…”, 2026); (4) There is a lack of awareness about the potential complications associated with CMN (“Congenital melanocytic nevus Ó? What are the potential complications?”, 2026); (5) There is a lack of awareness of the condition among dermatologists (“Non-Inflammatory Nevus Comedonicus”, 2026). 68 gap statements have been mined from Genetic and rare skin diseases. papers in our 4.5M-paper local library, which holds 563 papers on the topic; the gaps come from whichever of those papers state one. They are mostly the research gaps the authors state and the papers' abstracts, plus future-work, limitations and challenges passages. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one, so you can read the original claim in context.

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