Terminal osseous dysplasia with pigmentary defects (<scp>TODPD</scp>) due to a recurrent filamin A (<scp>FLNA</scp>) mutation

Brunetti‐Pierri, Nicola; Torrado, M; Fernández, María del Carmen; Tello, Ana; Arberas, Claudia; Cardinale, Antonella; Piccolo, Pasquale; Bacino, Carlos A.

doi:10.1002/mgg3.90

Cited by 4 publications

(7 citation statements)

References 11 publications

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“…2 In addition to that, FLNA mutations were not detected in the DNA extracted from blood in mothers with minor signs of TODPD from two families, although the affected daughters with complete clinical symptoms from two such pedigrees were all found to carry the c.5217G>A in the FLNA gene. 4 This phenomenon suggests that variants in the FLNA gene are associated with various clinical manifestations, and present possible germ line and somatic mosaicism in TODPD.…”

Section: Discussionmentioning

confidence: 99%

Terminal osseous dysplasia with pigmentary defects in a Chinese girl with the FLNA mutation: A case report and published work review

Xie

Xiao

et al. 2020

The Journal of Dermatology

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Terminal osseous dysplasia with pigmentary defects (TODPD) is an extremely rare X‐linked dominant syndrome characterized by pigmentary skin defects, cutaneous digital fibromas and skeletal anomalies. Recent studies have identified that TODPD is caused by a unique variant, c.5217G>A (p.Val1724_Thr1739del), in the FLNA gene, which could in turn lead to the elastic fiber abnormality in TODPD. We herein present a rare case of TODPD in a Chinese girl due to an FLNA c.5217G>A heterozygous mutation, but the skin lesion biopsy showed that the elastic fibers were within normal limits in the dermis. A published work review of TODPD with the FLNA mutation from various origins is also included in this paper. To the best of our knowledge, this is the first report on TODPD with the FLNA mutation in China.

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Section: Discussionmentioning

confidence: 99%

Terminal osseous dysplasia with pigmentary defects in a Chinese girl with the FLNA mutation: A case report and published work review

Xie

Xiao

et al. 2020

The Journal of Dermatology

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“…Brunetti‐Pierri et al () stated that the generalized bone involvement including bowing, mesomelic shortening, abnormal bony texture, narrow iliac wings and S‐shaped tibias observed in TODPD as similar and overlapping to FLNA‐related disorders such as Melnick‐Needles syndrome and otopalatodigital syndrome (Brunetti‐Pierri et al, ).…”

Section: Discussionmentioning

confidence: 99%

“…Overlap of TODPD clinical features with other regional skin hypoplasia‐related syndromes namely focal dermal hypoplasia (FDH), microphthalmia with linear skin defects (MLS), and oculocerebrocutaneous syndrome (OCCS), suggested a common pathogenic mechanism for these conditions (Giampietro et al, ). The FLNA gene is involved in signaling pathways that mediate organogenesis in multiple systems, mainly affecting central nervous system (CNS), cardiovascular system and skeleton (CVS), and skeleton (Brunetti‐Pierri et al, ). However, no skin findings have been reported in other FLNA‐related disorders.…”

Section: Discussionmentioning

confidence: 99%

“…Recent studies have revealed a role of somatic and gonadal mosaicism in TODPD (Brunetti‐Pierri et al, ). Although observation of SMH and Blaschkoid hypopigmented patch on the leg could have been considered suggestive for somatic mosaicism, sequencing of two different tissues, namely blood and fibroblasts, were nonmosaic for the recurrent mutation.…”

Section: Discussionmentioning

confidence: 99%

“…Skeletal findings include bowing and mesomelic shortening of long bones, abnormal bony texture with osteoporosis and cystic lesions with amorphous ossification of metacarpal, metatarsal and phalangeal disorganization leading to camptodactyly (Brunetti‐Pierri et al, ). Twenty‐eight cases from 14 families all molecularly diagnosed with TODPD have been reported up till now (Bacino et al, ; Baroncini et al, ; Bhabha, Walsh, Orchard, & Savarirayan, ; Bloem, Vuzevski, & Huffstadt, ; Breuning et al, ; Brunetti‐Pierri et al, ; Connor, Shchelochkov, & Ciliberto, ; Drut, Pedemonte, & Rositto, ; Horii, Sugiura, & Nakamura, ; Kokitsu‐Nakata, Antunes, & Guion‐Almeida, ; Sun et al, ).…”

Section: Introductionmentioning

confidence: 99%

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Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings

Azaklı

Akkaya

Aygün

et al. 2018

American J of Med Genetics Pt A

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Terminal osseous dysplasia with pigmentary defects (TODPD; MIM #300244) is an extremely rare, X-linked dominant, in utero male-lethal disease, characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibromatosis of childhood. Delayed/ abnormal ossification of bones of the hands and feet, joint contractures, and dysmorphic facial features may accompany. A single recurrent mutation (c.5217 G>A) of the FLNA gene which causes cryptic splicing was identified as the cause of the disease. We here present the first TODPD case from Turkey with full-blown phenotype who exhibit unique additional findings, hypopigmented patch on the lower extremity following Blaschko's lines and smooth muscle hamartoma of the scalp in review of all the previously reported TODPD cases. K E Y W O R D S digital fibroma, filamin A, hypopigmented patch, smooth muscle hamartoma, TODPD

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Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects

Connor

Shchelochkov

Ciliberto

2015

American J of Med Genetics Pt A

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Terminal osseous dysplasia with pigmentary defects (TODPD) is a rare, X-linked syndrome classically characterized by distal limb anomalies, pigmented skin defects of the face, and recurrent digital fibromas. X-inactivation plays a major role in determining the range of phenotypic expression. Thus, patients can demonstrate a wide spectrum of disease severity, making accurate diagnosis more challenging. Recent studies have identified a FLNA c.5217G>A mutation as the cause of TODPD, allowing for diagnostic genetic testing. We present a case of molecularly confirmed TODPD in a girl with the 47,XXX chromosomal complement and deformities of the hands and feet, craniofacial abnormalities, and discolored, linear facial lesions. Skin biopsy of the patient's facial lesion revealed absent papillary dermal elastic fibers, consistent with anetoderma, which contrasts with the dermal hypoplasia described in the only other such facial biopsy reported in the literature. The finding of absent elastic fibers in the skin lesions suggests that mutated filamin A, in part, exerts its effects through dysregulated elastin biology, which may explain the nature of many connective tissue pleotropic effects in FLNA-related disorders.

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Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation

Cited by 4 publications

References 11 publications

Terminal osseous dysplasia with pigmentary defects in a Chinese girl with the FLNA mutation: A case report and published work review

Terminal osseous dysplasia with pigmentary defects in a Chinese girl with the FLNA mutation: A case report and published work review

Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings

Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects

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