Nail manifestations of some important genetic disorders in children

Rogers, Maureen

doi:10.1046/j.1529-8019.2002.01515.x

Cited by 13 publications

(15 citation statements)

References 64 publications

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“…This leads to a progressive loss of the distal part of the nail, and almost total nail loss can occur. 11 Skin findings can be variable, ranging from tan-to-gray macular or patchy areas of hyper or hypopigmentation with a reticulated or mottled pattern. Atrophy and telangiectasias can also be present (poikiloderma).…”

Section: Discussionmentioning

confidence: 99%

Dyskeratosis congenita

Gitto¹,

Stoppacher²,

Richardson³

et al. 2020

Autops. Case Rep.

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Dyskeratosis congenita (DC) is a genetic syndrome with progressive multisystem involvement classically characterized by the clinical triad of oral leukoplakia, nail dystrophy, and reticular hyperpigmentation. Frequent complications are bone marrow failure, increased rate of malignancy, lung and liver diseases. DC results from an anomalous progressive shortening of telomeres resulting in DNA replication problems inducing replicative senescence. We report a death due to DC in a 16-year-old male with bone marrow failure and multiple organ dysfunction. At autopsy, nail dystrophy and skin hypopigmentation were observed. Gross and microscopic examinations of the internal organs showed cardiac hypertrophy, multiple lung consolidations and prominent interstitial fibrosis, liver cirrhosis, and fibrosis. Multiple foci of extramedullary hematopoiesis were identified, including on the epidural surface of the dura, that is an infrequent location, mimicking a focal area of epidural hemorrhage. Only a few autopsy studies about DC are reported in the literature. Further research should be done to understand the pathophysiology of the disease and its complications.

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Section: Discussionmentioning

confidence: 99%

Dyskeratosis congenita

Gitto¹,

Stoppacher²,

Richardson³

et al. 2020

Autops. Case Rep.

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“…9 Malvehy et al 7 reported that treatment of STIP with etretinate caused rapid resolution of the tumor without recurrence during the following 37 months. Although no recurrence has been reported in STIP after surgical therapy, multiple new lesions appear in other locations, requiring repeated surgeries.…”

Section: Discussionmentioning

confidence: 99%

Painful subungal dyskeratotic tumors in incontinentia pigmenti

Young¹,

Manolson²,

Cohen³

et al. 2005

Journal of the American Academy of Dermatology

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“…As a result of an osseous syndactyly subsequently changes in the nailbed may occur, the most frequent change being an acneiform eruption. Other occurrences include complete nail fusion with a single wide nail, central indentations, short nails with absent lunulae, and micronychia [ 14 ]. Narrowing of the nail may be achieved through fulguration of the lateral germinal matrix with electrocautery [ 12 ].…”

Section: The Apert Foot and Its Treatmentmentioning

confidence: 99%

Is the Apert foot an overlooked aspect of this rare genetic disease? Clinical findings and treatment options for foot deformities in Apert syndrome

Stauffer

Farr

2020

BMC Musculoskelet Disord

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Background Apert syndrome is characterised by the presence of craniosynostosis, midface retrusion and syndactyly of hands and feet, thus, synonymously referred to as acrocephalosyndactyly type I. Considering these multidisciplinary issues, frequently requiring surgical interventions at an early age, deformities of the feet have often been neglected and seem to be underestimated in the management of Apert syndrome. Typical Apert foot features range from complete fusion of the toes and a central nail mass to syndactyly of the second to fifth toe with a medially deviated great toe; however, no clear treatment algorithms were presented so far. This article reviews the current existing literature regarding the treatment approach of foot deformities in Apert syndrome. State-of-the-art topic review Overall, the main focus in the literature seems to be on the surgical approach to syndactyly separation of the toes and the management of the great toe deformity (hallux varus). Although the functional benefit of syndactyly separation in the foot has yet to be determined, some authors perform syndactyly separation usually in a staged procedure. Realignment of the great toe and first ray can be performed by multiple means including but not limited to second ray deletion, resection of the proximal phalanx delta bone on one side, corrective open wedge osteotomy, osteotomy of the osseous fusion between metatarsals I and II, and metatarsal I lengthening using gradual osteodistraction. Tarsal fusions and other anatomical variants may be present and have to be corrected on an individual basis. Shoe fitting problems are frequently mentioned as indication for surgery while insole support may be helpful to alleviate abnormal plantar pressures. Conclusion There is a particular need for multicenter studies to better elaborate surgical indications and treatment plans for this rare entity. Plantar pressure measurements using pedobarography should be enforced in order to document the biomechanical foot development and abnormalities during growth, and to help with indication setting. Treatment options may include conservative means (i.e. insoles, orthopedic shoes) or surgery to improve biomechanics and normalize plantar pressures. Level of evidence Level V.

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Nail manifestations of some important genetic disorders in children

Cited by 13 publications

References 64 publications

Dyskeratosis congenita

Dyskeratosis congenita

Painful subungal dyskeratotic tumors in incontinentia pigmenti

Is the Apert foot an overlooked aspect of this rare genetic disease? Clinical findings and treatment options for foot deformities in Apert syndrome

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