Case report

Skin manifestations of primary hyperoxaluria: a case report

Rony Shreberk-Hassidim1, MD, Reut Zaguri2, MD, Alexander Maly3, MD,
Abraham Zlotogorski1, MD, and Yuval Ramot1, MD, MSc

1
Departments of Dermatology,
2
Nephrology, and 3Pathology, Hadassah–
Hebrew University Medical Center,
Jerusalem, Israel

Correspondence
Yuval Ramot, MD, MSC
Department of Dermatology
Hadassah–Hebrew University Medical
Center
PO Box 12000
Jerusalem 9120001
Israel
E-mail: yramot@gmail.com

Conflicts of interest: None.

The primary hyperoxalurias are rare genetic autosomal
recessive metabolic diseases with endogenous overproduc-
tion of oxalate, resulting in deposition of oxalate crystals
in the kidney leading eventually to renal failure. As oxa-
late is only excreted by the kidneys, renal failure leads to
its systemic accumulation, a situation known as oxalosis,
affecting mainly the bones, joints, heart, eyes, and skin.1
Skin manifestations of primary hyperoxaluria include
peripheral gangrene, livido reticularis, and acrocyanosis
associated with the vascular deposition of oxalate.2 Here
we present a rare case of primary hyperoxaluria, demon-
strating the cutaneous findings of this disorder and high-
lighting the potential differential diagnoses for the skin
changes observed in this condition.
A 41-year-old woman with end-stage renal disease
requiring hemodialysis for the past four years presented
with ulcers and a reticular rash on her lower extremities
for the past few months. Her past medical history
includes primary hyperoxaluria, diagnosed by recurrent
nephrolithiasis, and elevated calcium oxalate deposits in
the urine and on renal biopsy. The patient underwent a
cadaveric renal transplantation; however, the transplanta-
tion was complicated by an acute rejection leading to its
removal. Since then the patient was treated with daily he-
modialysis (excluding weekends). Dermatological exami-
nation revealed widespread violaceous patches in a
reticular pattern, involving the lower legs (Fig. 1a), and
e478 some were covered by hemorrhagic bullae and ulcers
(Fig. 1b). Scattered solitary white calcified papules were
evident on her face, involving mainly the nose (Fig. 1c).
A 3 mm punch skin biopsy specimen was taken from the
border of the hemorrhagic bulla located on the anterior
right leg, demonstrating deposition of crystalline material
in the dermis and subcutis and within the lumen of a
medium-sized vessel (Fig. 2a). Using polarized light
microscopy, the crystalline material exhibited variable
needle-shaped and rectangular configurations (Fig. 2b).
Atrophy of the epidermis with vacuolar degeneration and
hyperpigmentation of the basal layer were also seen. In
the dermis, vascular congestion without thrombi accom-
panied by a few perivascular mononuclear cells was
observed, in addition to hemosiderin deposition in the
subcutis. The patient’s history, dermatological examina-
tion, and findings of the skin biopsy led to the diagnosis
of cutaneous oxalosis.
Cutaneous manifestations of primary hyperoxaluria are
uncommon, and the few reports available describe a retic-
ular rash and necrotic ulcers.3–5 The differential diagnosis
of cutaneous hyperoxaluria includes calciphylaxis or
nephrogenic systemic fibrosis; both are much more com-
mon in patients with chronic kidney disease undergoing
hemodialysis. Therefore, a skin biopsy with polarized
light microscopy is essential to make the right diagno-
sis.6,7
The presentation in our case includes reticular rash and
hemorrhagic bullae developing into ulcers resulting from

International Journal of Dermatology 2015, 54, e478–e479 ª 2015 The International Society of Dermatology
Shreberk-Hassidim et al. Skin manifestations of primary hyperoxaluria Case report e479

(a) (c)

(b)
Figure 1 (a,b) Violaceous patches
forming a reticular pattern, associated
with hemorrhagic bullae and ulcers on
the right anterior (a) and posterior (b)
shins. (c) Scattered solitary white
calcified papules on the face

(a) (b)

Figure 2 (a) Oxalate deposition

within the lumen of a medium size
vessel in the dermis of a punch biopsy
specimen taken from the right
anterior leg. (b) Polarized light
microscopy of the same specimen
demonstrating polarization of the
crystalline particles (hematoxylin–
eosin stain; original magnification,
9 400)

vascular depositions of oxalate behaving as thrombi and
calcified papules located on the face. It emphasizes the
broad dermatological clinical spectrum of hyperoxaluria,
representing vascular and extravascular deposition of
oxalate. To the best of our knowledge, this is the first
report of a patient with primary hyperoxaluria presenting
with both skin manifestations of oxalosis.
In conclusion, we presented a rare case of primary hy-
peroxaluria and end-stage renal disease, involving the skin,
such as reticular rash, hemorrhagic bullae, ulcers, and cal-
cified papules. Increased awareness of dermatologists to
this unusual presentation of oxalosis can improve the diag-
nosis of this disorder and prevent further complications.
References
1 Lorenz EC, Michet CJ, Milliner DS, et al. Update on
oxalate crystal disease. Curr Rheumatol Rep 2013; 15: 1–9.
2 Blackmon JA, Jeffy BG, Malone JC, et al. Oxalosis
involving the skin: case report and literature review. Arch
Dermatol 2011; 147: 1302–1305.
3 Bogle MA, Teller CF, Tschen JA, et al. Primary
hyperoxaluria in a 27-year-old woman. J Am Acad
Dermatol 2003; 49: 725–728.
4 Marconi V, Mofid MZ, McCall C, et al. Primary
hyperoxaluria: report of a patient with livedo reticularis
and digital infarcts. J Am Acad Dermatol 2002; 46: S16–
S18.
5 Galimberti RL, Parra IH, Imperiali N, et al. Fatal
cutaneous necrosis in a hemodialyzed patient with
oxalosis. Int J Dermatol 1999; 38: 916–925.
6 Daud
en E, O~ nate M-J. Calciphylaxis. Dermatol Clin 2008;
26: 557–568.
7 Schieren G, Wirtz N, Altmeyer P, et al. Nephrogenic
systemic fibrosis – a rapidly progressive disabling disease
with limited therapeutic options. J Am Acad Dermatol
2009; 61: 868–874.

ª 2015 The International Society of Dermatology International Journal of Dermatology 2015, 54, e478–e479