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Capillaroscopic findings in a case of Hajdu-Cheney syndrome

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Abstract

Summary

Hajdu-Cheney syndrome (HCS) is a rare disease which causes osteoporosis, digit shortening, and early tooth loss. In a young HCS female patient, the nailfold capillaroscopy showed reduced capillary height and reduced density in all affected fingers. Capillaroscopy could improve follow-up and therapy assessment in HCS.

Hajdu-Cheney syndrome (HCS) is a very rare connective tissue disease characterized by osteoporosis, early dentition loss and a particular phenotype as a result of enhanced NOTCH2 signaling. The pathogenesis of bone resorption and osteoporosis is not fully understood. The altered angiogenesis may play a role in acroosteolysis. We performed capillaroscopy in order to assess the microvascular involvement in a 21-year-old female patient with sporadic HCS. The patient presented with severe parodontopathy, acroosteolysis, and clubbing of four fingers and three toes. Hand radiographs showed periarticular osteoporosis and asymmetric bony involvement with acral resorption and/or transversal lucency bands in several fingers. Early collagen-vascular diseases were ruled out by clinical and ancillary examinations, including immunology and immunoblot for systemic sclerosis. Nailfold capillaroscopy showed reduction of capillary height and density in all affected fingers. Notably, in the fingers with acral resorption, many capillaries were dilated, while in the ones with radiolucency band, capillary dilation was a rare finding. In clinically unaffected fingers, the capillaroscopic findings were normal.To our knowledge, this is the first report of capillaroscopic findings in HCS. The nailfold capillaroscopic aspect reflects the involvement of acral vessels in HCS; thus, capillaroscopy may represent an early diagnostic tool as well as a means of therapeutical assessment. Repeated capillaroscopy in HCS may also add to the understanding of its pathogenesis.

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Fig. 1

Abbreviations

HCS:

Hajdu-Cheney syndrome

NV:

normal values range

anti-CCP:

anti-citrullinated C peptide

VSMC:

vascular smooth muscle cells

BMP:

bone morphogenic protein

CADASIL:

cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy

VEGF:

vascular endothelial growth factor

TGFbeta:

transforming growth factor beta

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Acknowledgments

The authors want to gratefully acknowledge the contribution of Professor Horatiu D. Bolosiu, our mentor, and of Cristina Pamfil for the editorial assistance.

Conflicts of interest

Laura-Otilia Damian, Siao-Pin Simon, Ileana Cosmina Filipescu, Corina Delia Bocsa, Carolina Botar-Jid, and Simona Rednic declare that they have no conflict of interest.

Author information

Authors and Affiliations

  1. Rheumatology Department, Emergency Clinical County Hospital Cluj, 3-5 Clinicilor Street, 400006, Cluj-Napoca, Romania

    L.-O. Damian, S.-P. Simon, I. Filipescu & S. Rednic

  2. CMI Dr. Damian, 6-8 P. Maior Street, 400002, Cluj-Napoca, Romania

    L.-O. Damian

  3. “Iuliu Hatieganu” University of Medicine and Pharmacy Cluj-Napoca, 8 Babes Street, 400012, Cluj-Napoca, Romania

    S.-P. Simon, I. Filipescu, C. Botar-Jid & S. Rednic

  4. Centrul Medico-Chirurgical “Interservisan”, 5 N. Pascaly Street, 400431, Cluj-Napoca, Romania

    C. Bocsa

  5. Radiology Department, Emergency Clinical County Hospital Cluj, 3-5 Clinicilor Street, 400006, Cluj-Napoca, Romania

    C. Botar-Jid

Authors
  1. L.-O. Damian
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  2. S.-P. Simon
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  3. I. Filipescu
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  4. C. Bocsa
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  5. C. Botar-Jid
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  6. S. Rednic
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Corresponding author

Correspondence to L.-O. Damian.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Suppl. 1

Large down slanted eyes, bushy eyebrows, micrognathia, retracted chin, thick hair with low hairline, low-implanted ear pavilions. (JPEG 820 kb)

Suppl. 2

Shortened distal phalanx in the 5th right finger (a, thick arrow) with pseudo-clubbing in the 1st right hand fingers (a) and 3rd and 5th left fingers (b) (arrows). Hand radiographs illustrating juxtaarticular osteoporosis and acral resorption mainly in the 5th right finger (c, thick arrow), with bands of lucency in the 1st right (c) and 3rd and 5th left fingers (d, arrows). (GIF 78 kb)

High resolution image (TIFF 1698 kb)

Suppl. 3

Bone mineral density assessment (DXA) using a Lunar Prodigy Advance (GE Healthcare, USA). (GIF 72 kb)

High resolution image (TIFF 1448 kb)

Suppl. 4

Wormian bones or accessory bones within the skull suture. (GIF 68 kb)

High resolution image (TIFF 1659 kb)

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Damian, LO., Simon, SP., Filipescu, I. et al. Capillaroscopic findings in a case of Hajdu-Cheney syndrome. Osteoporos Int 27, 1269–1273 (2016). https://doi.org/10.1007/s00198-015-3314-8

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  • DOI: https://doi.org/10.1007/s00198-015-3314-8

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