Pachyonychia congenita responding favorably to a combination of surgical and medical therapies

Daroach, Manju; Dogra, Sunil; Bhattacharjee, Rajsmita; Tp, Afra; Smith, Frances J.D.; Mahajan, Rahul

doi:10.1111/dth.13045

Cited by 7 publications

(4 citation statements)

References 7 publications

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“…Daroach et al found that nail plate avulsion in combination with oral sirolimus significantly improved pain, but did not prevent the regrowth of abnormal nail plates and, consequently, was only of temporary benefit. 4,[6][7][8] Control of the hypertrophic nail plates by amputation of the distal phalanx, while effective, is unacceptably extreme. 9 Cosman et al reported nail plate, GME, and pSME followed by full-thickness skin graft coverage with the remaining nail bed developing hyperkeratinization.…”

Section: Discussionmentioning

confidence: 99%

“… 2 3 Many treatments for PC focus on pain management with Botox injection and sirolimus, which has shown some efficacy in managing symptoms. 1 4 We present our experience and results of treating a pediatric patient with a combination of germinal matrix excision (GME) alone, GME with partial sterile matrix excision (pSME), and GME with complete sterile matrix excision (cSME).…”

Section: Introductionmentioning

confidence: 99%

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Surgical Management of Pachyonychia Congenita in a 3-Year-Old

Sudduth,

Clinker,

Holdaway

et al. 2023

Arch Plast Surg

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Pachyonychia congenita is a rare genetic disorder characterized by hypertrophic nail plates, hyperkeratotic nail beds, and thickened hyponychium of the fingers and toes, impairing manual dexterity and resulting in poor aesthetics. The current body of literature describes various treatment modalities, but no singular approach has been defined as the gold standard. In this case, the authors employed different surgical techniques for treating pachyonychia congenita to evaluate the most effective approach. A 3-year-old boy presented with hypertrophic nail growth involving all digits of both hands and feet. Three surgical procedures were performed on the patient's fingers and toes using germinal matrix excision (GME) alone, GME plus partial sterile matrix excision (pSME), or GME plus complete sterile matrix excision (cSME). The digits treated with GME + cSME exhibited no recurrence of nail growth. Those treated with GME alone exhibited recurrence of hypertrophic nail growth, although their growth slowed. Excision of GME + cSME prevented recurrence of hypertrophic nails, while GME alone or with pSME led to slower-growing hypertrophic nails. Complete excision of the germinal and sterile matrices with skin graft closure may be a definitive treatment for pachyonychia congenita, but further studies are needed to validate these findings.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Surgical Management of Pachyonychia Congenita in a 3-Year-Old

Sudduth,

Clinker,

Holdaway

et al. 2023

Arch Plast Surg

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“…This technique has been evaluated in XP fibroblast cell lines carrying a homozygous deletion in exon 9 of the XPC gene ( Dupuy et al, 2013 ). Although a correction in only 2.5% of the cells was attained, the investigators suggested this may be sufficient for clinical efficacy.…”

Section: Restoring the Underlying Gene Defect/productmentioning

confidence: 99%

Challenges in Treating Genodermatoses: New Therapies at the Horizon

Morren

Legius

Giuliano³

et al. 2022

Front. Pharmacol.

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Genodermatoses are rare inherited skin diseases that frequently affect other organs. They often have marked effects on wellbeing and may cause early death. Progress in molecular genetics and translational research has unravelled many underlying pathological mechanisms, and in several disorders with high unmet need, has opened the way for the introduction of innovative treatments. One approach is to intervene where cell-signaling pathways are dysregulated, in the case of overactive pathways by the use of selective inhibitors, or when the activity of an essential factor is decreased by augmenting a molecular component to correct disequilibrium in the pathway. Where inflammatory reactions have been induced by a genetically altered protein, another possible approach is to suppress the inflammation directly. Depending on the nature of the genodermatosis, the implicated protein or even on the particular mutation, to correct the consequences or the genetic defect, may require a highly personalised stratagem. Repurposed drugs, can be used to bring about a “read through” strategy especially where the genetic defect induces premature termination codons. Sometimes the defective protein can be replaced by a normal functioning one. Cell therapies with allogeneic normal keratinocytes or fibroblasts may restore the integrity of diseased skin and allogeneic bone marrow or mesenchymal cells may additionally rescue other affected organs. Genetic engineering is expanding rapidly. The insertion of a normal functioning gene into cells of the recipient is since long explored. More recently, genome editing, allows reframing, insertion or deletion of exons or disruption of aberrantly functioning genes. There are now several examples where these stratagems are being explored in the (pre)clinical phase of therapeutic trial programmes. Another stratagem, designed to reduce the severity of a given disease involves the use of RNAi to attenuate expression of a harmful protein by decreasing abundance of the cognate transcript. Most of these strategies are short-lasting and will thus require intermittent life-long administration. In contrast, insertion of healthy copies of the relevant gene or editing the disease locus in the genome to correct harmful mutations in stem cells is more likely to induce a permanent cure. Here we discuss the potential advantages and drawbacks of applying these technologies in patients with these genetic conditions. Given the severity of many genodermatoses, prevention of transmission to future generations remains an important goal including offering reproductive choices, such as preimplantation genetic testing, which can allow selection of an unaffected embryo for transfer to the uterus.

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“…Today, PC has been categorized into five types according to the underlying keratins genes mutations (KRT6A, KRT6B, KRT6C, KRT16 and KRT17) resulting in structural alterations in keratin proteins [83][84][85].…”

Section: Pachyonychia Congenitamentioning

confidence: 99%

Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge

Cantile

Coppola

Caponio

et al. 2021

JCM

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Genodermatoses represent a group of uncommon, hereditary, single-gene skin disorders, characterized by multisystem involvement, heterogeneous clinical manifestations and different degrees of morbidity and mortality. Some genodermatoses may have oral mucosa and nail involvement, since the oral cavity and cutaneous organ system, including nails, share a close embryologic origin. Nail disorders can manifest with nail hypoplasia or nail hypertrophy. Clinical pictures of affected oral mucosa can be extremely heterogeneous, ranging from asymptomatic papules to painful blisters, leukokeratosis, oral papillomas and fibromas to oral potentially malignant disorders and cancerous lesions. Oral mucosa and nails pathological features may occur synchronously or not and are usually associated with other systemic and skin manifestations. In some cases, oral mucosa and nails diseases may be distinct and constitute the principal sign of the genetic disorder, in other cases they represent only a part of the puzzle for the confirmation of the diagnosis. Continued awareness of the correlation between oral mucosa and nails findings can help physicians to diagnose genodermatosis in a timely manner, allowing more effective clinical management and prevention and/or early detection of complications. This article provides an overview of all specific genodermatoses affecting both oral mucosa and nails. Moreover, the correlation between teeth and nails is summarized in tabular form.

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Pachyonychia congenita responding favorably to a combination of surgical and medical therapies

Cited by 7 publications

References 7 publications

Surgical Management of Pachyonychia Congenita in a 3-Year-Old

Surgical Management of Pachyonychia Congenita in a 3-Year-Old

Challenges in Treating Genodermatoses: New Therapies at the Horizon

Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge

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