|Comments from Faculty and Members
John Fenyk MD, Clinical Professor, Department of
Dermatology, University of Minnesota, USA, on June
Is there history of trauma to the contralateral limb? Is there
history of prior thermal injury to this foot/limb? Reflex sympathetic
dystrophy (RSD) and chillblains need to be considered. The treatment
of RSD, though quite difficult might require beta-blockers,
physical therapy etc. in addition to aspirin therapy. While
clearly atypical, Raynaud's and a livido vasculitis should be
Robert Rudolph MD, FACP, Clinical Professor of Dermatology,
University of Pennsylvania, Philadelphia, PA, USA on
June 12, 2006
My diagnosis would simply have been "a vasculitis",
and this entity would not have been in my differential list.
I worry about some undefined hematologic process or clotting
factor problem, some kind of peculiar enzyme deficiency, and
also worry about an occult drug ingestion, and even (I shudder
in a kid this age!) smoking.
If this kid really has this disease, then a "tip of the
hat" to all who made the diagnosis. I would not have, even
in the face of the pathologic findings.
Khalifa Shaquie MD, PhD, Professor of Dermatology,
College of Medicine, University of Baghdad, Baghdad, Iraq
on June 17, 2006
It is not easy to differentiate between vasculitis and atrophie
blanche even by histopathology.There many overlapping features
T C Satish MD, Dubai, UAE on June 17, 2006
I think there is a prothrombotic phenomenon and Factor V Leiden
mutation could be significant in this boy. I also would think
about a fixed eruption due to the ingestion of some food or
Jag Bhawan, MD, Professor of Dermatology & Pathology,
Head, Dermatopathology Section, Director, Skin Pathology Laboratory,
Boston University School of Medicine, Boston, MA., USA
Therese el Helou, MD Fellow, Dermatopathology, Boston
University School of Medicine, Boston, MA., USA on
July 4, 2006
The clinical presentation and the histologic findings are consistent
with the diagnosis of Atrophie blanche / livedoid vasculitis.
The patient was found to have Factor V Leiden gene heterozygous
G1691A mutation, which was interpreted as probably non significant.
Factor V G1691A gene mutation is listed among the most common
inherited prothrombotic risk factors in children (1). There
is an increased risk of venous thromboembolism for factor V
Leiden deficiency in both heterozygous (7-fold) and homozygous
(80-fold) phenotypes (4). The patient should be checked if he
is only heterozygote for factor V Leiden deficiency or also
is pseudohomozygote. Pseudohomozygotes are Factor V Leiden heterozygotes
who carry a null mutation on the counterpart (non-Leiden) Factor
V allele. Factor V Leiden pseudohomozygotes are exposed to the
same risk for thrombosis as homozygotes (4).
Thrombophilia is a multifactorial disorder. The simultaneous
occurrence of hereditary thrombophilias and prothrombotic polymorphisms
was shown to substantially increase the risk of venous thromboembolism
(5). Coexistence of established and potentially inherited conditions
predisposing for thrombosis are found for Factor V:Q506 in association
with protein C, protein S, antithrombin and heparin cofactor
II deficiencies, and Lp (a) and histidine-rich glycoprotein
levels increase( 2).
Coincidence of elevated Lp (a) with factor V:Q506 mutation or
deficiencies of protein C or antithrombin increases the risk
for thromboembolic events to 8.4 ( 3). The common occurrence
of heterozygous factor V G1691A and homozygous 5,10-methylenetetrahydrofolate
reductase (MTHFR) C677T leads to hyperhomocysteinemia which
was shown to confer a greater risk of venous thromboembolism
than factor V G1691A alone ( 5).
More work up is suggested:
Factor II G20210A gene mutation (if not done, because it was
listed as non detected), same for cryoglobulins (listed as not
detected), apolipoprotein (a), homozygous C677T polymorphism
in the methylenetetrahydrofolate reductase gene, antithrombin-deficiency,
heparin cofactor II-deficiency, and levels of histidine-rich
In addition to what he has already received more options mentioned
in the literature (6, 7, 9) include warfarin, niacin, pentoxifylline,
beraprost sodium (a synthetic Prostaglandin I2 analogue), IV
immunoglobulin, hyperbaric oxygen therapy, tissue plasminogen
activator (t-PA). If there is a deficiency of homocysteine metabolism,
vitamin supplementation with folate, vitamin B12 and B6 is helpful
1- Nowak-Gottl U, Duering C, Kempf-Bielack B, Strater R. Thromboembolic
diseases in neonates and children. Pathophysiol Haemost Thromb.
2003 Sep-2004 Dec; 33(5-6):269-74. Review.
2- Ehrenforth S, Junker R, Koch HG, Kreuz W, Munchow N, Scharrer
I, Nowak-Gottl U. Multicentre evaluation of combined prothrombotic
defects associated with thrombophilia in childhood. Childhood
Thrombophilia Study Group. Eur J Pediatr. 1999 Dec; 158 Suppl
3- Nowak-Gottl U, Junker R, Hartmeier M, Koch HG, Munchow N,
Assmann G, von Eckardstein A. Increased lipoprotein(a) is an
important risk factor for venous thromboembolism in childhood.
Circulation. 1999 Aug 17; 100(7):743-8.
4- Simioni P, Castoldi E, Lunghi B, Tormene D, Rosing J, Bernardi
F. An underestimated combination of opposites resulting in enhanced
thrombotic tendency. Blood. 2005 Oct 1; 106(7):2363-5. Epub
2005 Jun 16.
5- Salomon O, Steinberg DM, Zivelin A, Gitel S, Dardik R, Rosenberg
N, Berliner S, Inbal A, Many A, Lubetsky A, Varon D, Martinowitz
U, Seligsohn U. Single and combined prothrombotic factors in
patients with idiopathic venous thromboembolism: prevalence
and risk assessment. Arterioscler Thromb Vasc Biol. 1999 Mar;
6- Juan WH, Chan YS, Lee JC, Yang LC, Hong HS, Yang CH. Livedoid
vasculopathy: long-term follow-up results following hyperbaric
oxygen therapy. Br J Dermatol. 2006 Feb; 154(2):251-5.
7- Calamia KT, Balabanova M, Perniciaro C, Walsh JS. Livedo
(livedoid) vasculitis and the factor V Leiden mutation: additional
evidence for abnormal coagulation. J Am Acad Dermatol. 2002
Jan; 46(1):133-7. Review.
8- Gibson GE, Li H, Pittelkow MR. J Am Acad Dermatol. 1999 Feb;
40(2 Pt 1):279-81. Homocysteinemia and livedoid vasculitis.
9- Carolyn Bryant Lyde. Atrophie blanche: a review from the
perspective of a 31 patient cohort. Dermatologic Therapy, Vol.14,