Urticaria pigmentosa in a child 
Case report 
URTICARIA PIGMENTOSA 
IN A CHILD 
( telangiectasia macularis eruptiva perstans) 
P. Cattonar, G. Grandi, M. Plebani, D. Faggian, G. Falconieri and G. Trevisan 
SUMMARY 
We present a case of telangiectasia macularis eruptiva perstans (TMEP) that occurred in an asymptomatic, 
otherwise healthy 15 year-old boy. He presented with a diffuse, telangiectasic macules within a tan-brown 
background. 
No systemic symptoms were mentioned. Pertinent laboratory examinations showed increased serum concentration 
of histamine and heparin and an augmented urinary excretion of histamine. Microscopic examination of 
alcohol-fixed biopsy specimen of skin showed an increased number of mast cells. 
A brief discussion is provided, especially in view of the rarity of telangiectasia macularis eruptiva perstans 
in this age group. 
KEY WORDS 
Mastocytosis, telangiectasia macularis eruptiva perstans, mast cells, histamine 
INTRODUCTION 
Cutaneous mastocytosis is a disease of pediatric 
age (1,2,3). It presents with four main clinical pattems, 
including the customary urticaria pigmentosa (UP), 
solitary mastocytoma, diffuse erythrodermic mastocytosis 
and the rare talangiectasia macularis eruptiva perstans 
(TMEP) ( 4). Histologically, typical skin lesions feature 
diffuse perivascular accumulation of mast cells, likely 
related to hyperplastic activation secondary to specific, 
rather than humorni stimulation. In fact, experimental 
evidence has been provided that local injection of 
mast celi growth factor (MGF) causes a cutaneous 
picture similar to that seen in mastocytosis (5). 
Moreover, increased local concentration of MGF is 
acta dennatovenerologica A.P.A. Vol 6, 97, No 3 
not paralleled in mastocytosis by a corresponding 
increase of serum concentration of MGF (6). 
Although the skin is the most frequently involved 
organ in mastocytosis (2) and cutaneous lesions 
allow promptly the correct diagnosis, systemic 
involvement has been occasionally reported in the 
adults, especially in extracutaneous sites such as the 
central nervous system, gastrointestinal tract, bones 
and hematopoietic tissues (3). In these conditions, 
the count of circulating mast cells is comparably 
greater than in the localized forms (7). 
In adult patients severa! diagnostic investigations, 
including invasive ones, are advisable even in absence 
of general symptoms, given the possibility of an 
101 
Urticaria pigmentosa in a child 
Fig l. Teleangiectasia macularis eruptiva perstans 
(TMEP): clinical picture. 
underlying systemic disease. On the other band, 
TMEP in children may be better approached with 
non-invasive procedures unless there is a clinical 
Fig 2. Teleangiectasia macularis eruptiva perstans 
(TMEP): spindle-shaped mast cells in the upper dermis 
and around vessel (toluidine blue x 64). 
102 
' 
Fig. 3 Same as Fig. 2 at a higher magnification. 
evidence or suspicion of a systemic disorder. 
We report a case of TMEP seen in a 15-year-old 
boy and briefly discuss our findings, also analyzing 
the available literature on the subject. 
CASE REPORT 
A 15-year-old boy was admitted to our outpatient 
care center for asymptomatic telangiectatic confluent 
macules localized on the arms, _ trunk and face. (Fig 
1). The lesions occurred within a tan-brown background 
and were referred to have been present for about 2 
years. A centripetal spreading from the chest skin 
to the arms and the face had been noted. Past 
medica! history was unremarkable, general symptoms 
were not referred. Physical examination was negative 
and a Darier's sign was evocable with difficulty. 
Routine laboratory examinations were within the 
normal range, e.g. , blood coagulation tests, !iver 
function tests, urine analysis and total serum proteins. 
acta dermatovenerologica A .P.A. Vol 6, 97, No 3 
Urticaria pigmentosa in a child 
A punch biopsy of a skin lesion was done: histologic 
examination of hematoxylin-eosin stained sections 
obtained from 10% formalin fixed and routinely 
processed tissue gave non-diagnostic results. Following 
perilesional anesthesia a second skin biopsy was 
taken and placed in 95% ethanol. Histologic sections 
showed an increased number of mast cells in the 
papillary dermis and around superficial vessels. The 
basal celi layer of the epidermis contained an increased 
amount of melanin (Fig. 2 and 3). 
An x-ray examination of the skeleton as well as 
ultrasound seans of the !iver and spleen were within 
the normal limits. 
Increased values of serum heparin (31 Usp/ml; 
normal O) and histamine (16 micron mol/1; normal 
0-10 micron mol/1) were detected. We tested serum 
tryptase (O; normal O) and the 24-hour urinary 
excretion of histamine in repeated measurements (195 
mcmol/mol creatinin; normal 80-170 mcmol/mol 
creatinin) and tromboxan (0.4 microng/1; normal O). 
In order to avoid mast celi degranulation we 
advised the patient not to use orally acetil-salicylic 
acid. Clinical follow-up was uneventful: skin lesions 
remained stationary. No systemic symptoms have 
been referred to by the patient. 
DISCUSSION 
TMEP ( 4,8-10) is a rare form of cutaneous 
mastocytosis that was originally described by Parkes 
in 1930 (8). The descriptive term is related to 
macroscopic erythematous appearance of the skin 
lesions caused by permanent vessel expansion secondary 
to local liberation of histamine and angiogenetic 
factors (9). 
Usually this type of mastocytosis appears in middle-
aged (11) obese women (2). A familiar transmission 
was reported (12). Sometimes atypical clinical pictures 
were described as erythrodermic evolution (13), 
poikilodermic (9), prevalently telangiectatic (8), 
diascopically brown hyperpigmented lesions (8). Facial 
and mammary (14) linear unilateral dermatomeric 
localizations were also observed. TMEP was described 
in association with classic UP ( 4). 
In our patient TMEP had classic clinical presen-
tation, localization and evolution without systemic 
characteristics. Peculiarity of this case is the age of 
the patient: TMEP has been rarely described in 
children (9). 
The clinical picture was histologically confirmed. 
In the classic mastocytosis the mast celi infiltrate is 
acta dermatovenerologica A.P.A. Vol 6, 97, No 3 
abundantly present and easily recognizable (15,16), 
whereas it is less cellular, usually perivascular and 
more subtile in TMEP, especially if mast cells have 
undergone degranulation induced by anesthetics (2,17). 
In our case we used a non-epinephrine drug injected 
perilesionally to prevent local degranulation of mast 
cells: 95% ethanol acted as a better fixative than 
formalin (3). Finally, toluidine blue staining allowed 
prompt recognition of mast cells. More evident, 
metacromasia which is correlated with high leve! of 
pH, seems to be associated with benign forms of 
mastocytosis (18). 
Systemic manifestations (19-21) and occasionally 
serious evolution (21,22) are reported in mastocytosis, 
probably reflecting high leve! of histamine and its 
metabolites (22). Systemic symptoms have been 
reported also in absence of skin lesions (22,23). 
In addition, hepato-splenomegalia, intestinal he-
morrhages, gastric ulcers, abdominal cramps, malab-
sorption (9,10), dyspnea, tachycardia, headache, dep-
ression (20), hematologic alteration (24,25), risk of 
pre-term labour, periodic loss of consciousness (22), 
flushing and diarrhoea (26) have been described in 
the course of systemic TMEP. Neuro-psychiatric and 
electrocardiographic alterations are frequently caused 
by direct effect of mediators (7,19). TMEP is rarely 
related to malignant and fatal hematologic alterations 
(19) and for this reason bone biopsy is seldom 
performed. Reports are available detailing increased 
number of cytologically normal or atypical mast celi 
(10) in the bone marrow. Monoclonal peak and 
anaplastic anemia (21) have been described in the 
course of mastocytosis. 
Although severa! articles have been published dealing 
with questionable systemic involvement, TMEP is 
characterized in the majority of cases by skin lesions 
only and its prognosis is good. For this reason, 
non-invasive diagnostic procedures are advisable in 
such cases, especially in presence of classic clinical 
signs and laboratory data. 
Radiographic examination of the skeleton was 
negative in our patient. It is important to stress 
that bone abnormalities have been reported in 
57% of patients with cutaneous mastocytosis (3). 
Also 9% of adults and 15 % of pediatric patients 
(27) with asymptomatic mastocytosis have had patho-
logic bone manifestations. As far as organ-related 
symptoms are present or appear in the course of 
the disease, biopsy may be useful to assess mast celi 
infiltration. 
Laboratory measurements of mast celi released 
substance provide diagnostic support in clinically 
103 
Urticaria pigmentosa in a child 
suspected cases of TMEP (28). In particular, high 
levels in serum and urine of histamine and other 
mediators, tromboxane and heparin helped establish 
the diagnosis of TMEP (1,29). Urinary increased 
and persistent excretion of N-methylhistamine, a 
histamine metabolite, though elevated in systemic 
TMEP, is non-specific since it has been reported in 
hypereosinophilic states. It is possible to measure 
methyl-imidazol-acetic acid and other mast cell 
enzymes. Systemic effects of increased level of heparin 
are limited. Serum tryptase determination by 
radioimmunoassay is technically difficult, but highly 
specific, since it is increased only in mastocytosis. 
Urinary metabolites of PGD2 by mass spectroscopy 
can be related to the level of histamine metabolites. 
The therapy of cutaneous mastocytosis is conservative 
and symptomatic and it consists of systemically 
applied antihistaminics to reduce itching. Neurologic 
manifestation (22), carcinoid syndrome (26), dyspnea, 
headache, tachycardia and depression (20) can be 
alleviated with this therapy. However, such a treatment 
does not influence the evolution of the disease and 
several patients can become resistant to it (8). 
Substances and behaviour enhancing mast cell 
degranulation must be avoided to prevent flushing, 
headache or syncopes (13). 
CONCLUSION 
Considering the exclusive skin involvement and 
the absence of symptomatology, as reported in this 
case, no therapy is indicated. Periodic follow-ups 
are, however, recommendable. A study of further 
cases is needed in order to draw more definite 
conclusions concerning prognosis and treatment. 
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AUTHORS' ADDRESSES 
Patrizia Cattonar, MD, Institute of Dermatology, University of Trieste, Cattinara Hospital, Strada per 
Fiume, 34100 Trieste, Italy. 
Giorgio Grandi, MD, Institute of Pathologic Anatomy, University of Trieste, 34100 Trieste, Italy. 
Mario Plebani, MD, Dpt of Laboratory Medicine, Padova, Italy. 
Diego Faggian, MD, Dpt of Laboratory Medicine, Padova, Italy. 
Giovanni Falconieri, MD, Institute of Pathologic Anatomy, University of Trieste, 34100 Trieste, Italy. 
Giusto Trevisan, MD, Institute of Dermatology, University of Trieste, Cattinara Hospital, Strada per 
Fiume, 34100 Trieste, Italy. 
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