Epidermolyric hereditary PPK 
Case report 
KERATOSIS PALMARIS ET PLANTARIS CUM 
DEGENERA TIONE GRANULOSA VORNER 
M. Berčič, S. Vrečko, J. Miljkovic, D. Rems 
ABSTRACT 
This is a report on three cases of keratosis palmaris et plantaris cum degeneratione granulosa Vomer. 
The first case is a 40-year-old female patient wbo bas palmoplantar keratoses since ber first year of life. The diagnosis of 
Vomer's disease was made in 1983, in spite of negative family data. It was confirmed on the basis of the clinical picture, the course 
ofthe disease and especially on the basis ofrare histological symptom, epidermolytic byperkeratosis. The fina! confirmation is 
represented by the patient's son, our second case, bom in August 1991 with palmaplantar keratotic lesions already at birth. 
The third case, an 18-year-old girl, is unrelated with the other two and comes from a different region of the country. Her family 
case bistory is negative. 
KEYWORDS 
bereditary palmoplantar keratoses, epidermolytic byperkeratosis, Vomer's disease 
INTRODUCTION 
Palmoplantar keratoses are a beterogeneous group of rare 
genodermatoses wbicb can sometimes be associated with 
other symptoms, or only keratodermic lesions are presented 
on palms and soles. 
A special variant ofpalmoplantar keratosis, whicb Vomer 
described in 1901, bas identical clinical symptoms with 
Unna-Thost disease. The lesions are symmetrical and consist 
of diffuse thickening of tbe skin on palms and so les. Manual 
dexterity may be reduced severely. A restriction of movement 
is present. There are no associated symptoms. 
Both diseases are transmitted as autosomal dominant traits: 
54 
they begin at birth or during the first or second year of life. 
Vomer's disease (syn.: keratosis palmaris et plantaris cum 
degeneratione granul osa; epidermolyticPKK) can be excluded 
only bistologically. Wbereas in Unna-Thost disease the only 
sign is a massive thickening of the stratum comeum, in 
Vomer's disease the bistological picture sbows the specific 
symptom, i.e. epidermolytic byperkeratosis. 
OURCASES 
Case l. V. M., a 40-year-old female patient, a teacber by 
profession. We first met ber in 1983, during a random study 
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Epidermolytic hereditary PPK 
of a group of acquired keratodermic palmoplantar dermatoses. 
Anamnestic data: The disease first appeared during her 
first year of life. The initial symptom was a severe itching of 
the palmoplantar skin . Later on, the skin of the palms and 
soles became thick and hard. In the course of several years 
these conditions were worsening steadily, butat present the 
disease no longer progresses. Because of thekeratotic lesions, 
the movement of the hands is restricted. The temporary 
scaling and painful fissures are much more disturbing to our 
patient. As she is nota manual worker, she does not suffer too 
much and can cope with her problems. Her treatment consists 
of a permanent symptomatic topical therapy. 
Clinical findings: Diffuse thickening of the palmoplantar 
skin, including the volar side of the fingers, of the palms and 
the regi on of the Achilles tendon of the feet. The symmetry 
ofkeratotic lesions is evident. The thickened skin is waxy and 
yellow, with exaggerated markings. There are some fissures. 
The volar and plantar hyperkeratoses are sharply defined 
against the normal skin by a pinkish red margin (Fig. l ). 
There are no other associated abnormalities ofthe skin, hair, 
nails or teeth. Otherwise her state of health is satisfactory. 
The routine laboratory findings are within normal limits. 
Figure. 1. 
Theclinical pic ture of epidermolytic PPK. Diffuse thickening 
of the skin of palms and of the volar sides of fingers. (C ase 
1.) 
Histopathological findings: Regular acanthosis of the 
epidermis. Massive, compact hyperkeratosis. A thickened 
granular layer containing an increased number of small or 
large and also irregularly shaped keratohyalin granules and 
homogeneous eosinophilic bodies. Within the epidermal 
celi s of the stratum granulo sum et stratum spinosum there are 
perinuclear clear areas, the cells seem vacuolised. The basal 
and suprabasal layer are both normal. The superficial de1mis 
is devoid of significant inflarnmatory cell infiltrates (Fig. 2). 
acta dermatovenerologica A.P A . 2-92 
Figure 2. 
Epidermolytic PPK. Hyperkeratosis, very broad granular 
zonewithgranulesofvarioussizeandshape.HE-160X.(Case 
1.) 
The course of the disease in our first patient is steady, the 
disorder does not progress. 
Treatment. As the patient has no major difficulties, we did 
not decide on treatment with medicaments such as etretinate. 
The symptomatic local therapy is quite sufficient. 
Case 2. V. M., an one-year-old boy, whose mother is our 
first female patient. In spite of her knowledge of her own 
hereditary disorder, she wanted the child. In the third month 
of pregnancy a karyogram was made, but it showed no 
pathological signs. As in the Matemity Centerthe termination 
of pregnancy was not strictly advised, she decided to give a 
birth to her child. The boy was bom normali y at term, after an 
uneventful pregnancy. Already at birth he had palmoplantar 
lesions. But otherwise he was a normal child, without any 
other abnormalities. 
We first saw him when he was ten months old. Except for 
the skin manifestations, he was a healthy child and doing 
well. 
The keratotic lesions on palms and soles were almost 
identical with his mother's, but the symptoms were not as 
exaggerated (Fig. 3, 4). 
The histological findings were also the same. The 
histological picture showed the typical epidermolytic 
hyperkeratosis, but with less expressedhistological symptorns 
(Fig.5, 6, 7) 
Ultrastructural findings .The material was sent for electro-
microspic analysis. 
The course of the disease. For the tirne being, the disease 
55 
Epidermolytic hereditary PPK 
Figure 3. 
Epidermolytic PPK in an 1-year-old boy. lnvolvement ofthe 
palm. (Case 2). 
is not changing for the worse. 
Treatment. It is in the form of symptomatic topical therapy 
with cold cream alternating with an ointment containing 
salicylic acid. 
Case 3. S. M., an 18-year-old girl, a student. In 1991 she 
had to be hospitalised because of painful symmetrical 
palmoplantar keratotic lesions. She declared that she had the 
condition since birth and that nobody in her whole famil y had 
sirnilar difficulties. 
The histological picture of epidermolytic hyperkeratosis 
revealed the diagnosis of Vomer's disease. 
The clinical picture was identical with that in the other two 
patients, i. e. there were symmetrical, sharply demarcated 
palmoplantar keratotic lesions with a pinkish red rim. 
Treatment. As the long-term therapy with etretinate orally 
was not satisfactory, the treatment now consist of a permanent 
56 
Figure 4. 
Epidermolytic PP K in an 1-year-old boy. lnvolvement of the 
sole. (Case 2.) 
symptomatic local application of ointments containing 
salicylic acid. The exaggerated keratotic masses are also 
removed with a special file . The patient does relatively well. 
DISCUSSION 
The epidermolyticPPK is considered to be ararehereditary 
disorder. According to the statement by Hamm et al. (1), 
since the first description of this disease by Vomer in 1901, 
further cases were not published before 1926. The family 
observation by Hahn in 1911 (2) represents an exception. In 
the last decades, however, thenumber ofreports has increased 
rapidly. In the paper published in 1988, Hamm et al. ( 1) gave 
a list of previous reports on 42 family observations and 11 
sporadic cases of Vomer's disease, including their own 
twelve histologically confirmed cases (1, 2, 3, 4, 5, 6, 7). 
To our knowledge, since 1988 three further cases were 
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Epidermolytic hereditary PPK 
Figure 5. 
Epidermolytic PPK. Hyperkeratosis, hypergranulosis, 
vacuolisation oj the cel/s in stratum spinosum. HE 40X. (an 
1-year-old boy case 2.) 
published in literature (8, 9). Tothe total number we now add 
our three cases. 
The increasing number of case reports of Vorner's disease 
is obviously due to the awareness of the histological pattem 
of epide1molytic hyperkeratosis in this disease. Within the 
group of diffuse PPK, Vomer's epidermolytic PPK is so far 
considered to be the only showing thisdistinctive histological 
traith. If this holds true, the presence of epidermolytic 
hyperkeratosis should allow a definite diagnosis. 
Consequently, a correct classification of diffuse PPK is 
impossible without histological investigation. For this reason, 
the frequency of Vomer's epidermolytic PPK was cenainly 
underestimated in the past (1). 
On the other hand, within the large group of ali other 
hereditary keratotic disorders, Vomer's disease is not the 
only condition with the specific histologic and ultrastructural 
findings of epidermolytic hyperkeratosis. The same 
acta dermatovenerologica A.P.A. 2-92 
Figure 6. 
Epidermolytic PPK. Higher magnification of the fig . 5. 
Hyperkera/osis, broad granular zone with a great number oj 
granules, clear spaces in the cel/s oj the stratum spinosum, 
HE 140X 
histological changes are also found in other disorders such as 
congenital bullous ichthyosiform erythroderma and nevus 
hystricoides, including some linear and systematised nevi. 
As early as 1966 Schnyder and Klunker (7) were of the 
opinion that these three manifestations were related. This 
opinion is shared by other authors (6, 8). Claudine Blanchet-
Bardon et al. believe that ali three conditions represent the 
same disease in which clinical manifestations range from 
generalised forms (congenital bullous ichthyosiform 
erythroderma) to localised forms, such as Vorner's PPK and 
nevus hystricoides linearis. Hadlich and Ruthild Linse (8) 
suppon this opinion and confirm it with their own case of one 
male patient showing the clinical and histological symptoms 
of ali three disorders. 
The mode of inheritance ofV omer's disease is not absolutely 
57 
Epidermolytic hereditary PPK 
elucidated yet. Although it is considered to be a hereditary 
disorder, inherited in the dominant autosomal trait, there are 
numerous solitary cases of the disease (1). On the basis of 
their report on two brothers with epidermolytic PPK with 
negative family data, Quasem et Ahmed (9) even suggest the 
possibility of an autosomal recessive mode of inheritance. 
Figure 7. 
Epidermolytic PPK. The typical changes in the granular 
layer. (Detail oj fig. 6 .) 
Hadlich and Ruthild Linse (8) support the beliefthat large 
family investigations are difficult to carry out and they are not 
always precise. Therefore the number of genuine solitary 
cases may not be so high. W e share this opinion. Our firstcase 
of Vomer's disease seemed at first to be a solitary case. But 
9 years later, with the bird of the boy showing evidence ofthe 
same clinical and histological conditions, the case tumed into 
an authentic family case (Fig. 8). 
58 
TREATMENT. 
The treatrnent of Vomer's disease is not satisfactory. 
Etretinate, or its main metabolite en·etin, is effective, if at 
ali, only in arresting the progression ofthe disease, but itmay 
I. 
II. 
III. 
Figure 8. 
The pedigree oj mother and son with epidermolytic PPK. 
(C ase 1. and 2.) 
improve the working capacity of the patient. As this drug has 
no influence on the basic defect of disorder, it is even not 
indicated. Metotrexate is also not helpful. There are some 
reports on the relatively good effect of surgical treatrnent 
( 1 O). So in most cases permanent symptomatic to pica! therapy 
remains as our only option. 
Our patients were also n·eated in similar manner. 
We thank M. Gajšek-Marchetti, translator, from the Medica! 
Research Departrnent at Maribor Teaching Hospital, for 
help. 
acta dermatovenerologica AP A. 2-92 
Epidermolytic hereditary PPK 
REFERENCES 
(l)HammH,HappleR,ButterfassT, TraupeH:Epidermolytic 
palmoplantar keratoderma of Vtimer: 1s it the most frequent 
type ofhereditary palmoplantarkeratoderma? Dermatologica 
1988; 177: 138-145. 
(2) Hahn E: Uber das Keratoma palmare et plantare 
hereditarium mit besonderer Berilcksichtigung der 
Vererbungsfrage. Dermatol Z 1911; 18 (Erg): 138-156. 
(3) Haneke E: Keratosis palmaris et plantaris cum 
degeneratione granulosa Vtimer. Hautarzt 1982; 33: 
654-656. 
(4) Thomas JR III, Grene SL. Su WPD: Epidermolytic 
palmoplantar keratoderma. Int J Dermatol 1984; 23: 
652-655. 
(5) Camisa C, Williams H: Epidermolytic variant ofhereditary 
palmoplantar keratoderma. Brit J Dermatol. 1985; 
112: 221-225. 
(6) Blanchet-Bardon C, Nazzaro V, Chevrant-Breton J et al.: 
Hereditary epidermolytic palmoplantar keratoderma 
associated with breast and ovarian cancer in a large kindred. 
BritJ Dermatol 1987; 117: 363-370. 
(7) Schnyder U W, Klunker W: Erbliche Verho-
rnungssttirungen der Haut. In: Handbuch der Haut-und 
Geschlechtskrankheiten. Erganzungswerk Bd. VII. Hrsg.: 
Jadassohn J Berlin-Heidelberg-New York; Springer Verlag 
1966. 
(8) HadlichJ, Linse R: Keratosenmit granularer Degeneration 
und ihre Beziehungen zueinander. II. Mitteilung: Hete-
rophanie von epidermolytic hyperkeratosis (Erythrodermia 
congenitalis ichthyosifo1mis bullosa), Naevus hystricoides 
und Keratosis palmoplantaris cum degeneratione granulosa 
Vtirner. Dermatol. Mon. schr. 1989; 175: 418-424. 
(9) Quasem A Alsaleh, Ahmed S Teebi: Autosomal recessive 
epidermolytic palmoplantar keratoderma. J Med Genet 1990; 
27: 519-522. 
(10) Tropet Y, Zultak M, Blanc Det al: Surgical treatment of 
epidermolytic hereditary palmoplantar keratoderma. J Hand 
Surg 1989; 14A: 143-149. 
AUTHORS' ADDRESSES 
Marija Berčič M. D., Ph. D., dermatologist 
Department ofDermatology, Teaching Hospital Maribor, Ljubljanska 5, 62000 Maribor, Slovenia 
Sonja Vrečko, M. D., dermatologist, the same address 
Jovan Miljkovic, M. D., dermatologist, the same address 
Dušan Rems, M. D., dermatologist, the same address 
acta dermatovenerologica AP A. 2-92 59