CASE REPORT

Niger J Paed 2014; 41 (1):74 –77

Anigilaje EA

Dzuachii DO

Autosomal dominant

non-epidermolytic palmoplantar

hyperkeratosis in a Nigerian girl

DOI:http://dx.doi.org/10.4314/njp.v41i1,14

Accepted: 12th August 2013

Abstract Palmoplantar kerato-

derma (PPK) is a hereditary cuta-

neous disorder characterized by a

marked hyperkeratosis of the

palms and soles. A variant that

was inherited in an autosomal

dominant form was highlighted in

a 20-month-old girl-child. The

proband was brought to the Paedi-

atric Outpatient Department by

her mother because of an unusual

but a familiar thickening of the

palms and soles, having married

to the proband’s father who is

thickening of the palms and soles,

occurring over one-and-half

months. There were no associated

systemic symptoms and the hair,

the teeth and nails were not af-

fected. PPK, although a common

cutaneous disorder, has been

reported sparingly in Nigeria. The

index case was diagnosed his-

tologically to be the non-

epidermolytic type and a high dose

of vitamin A and salycylic acid

ointment were administered with a

little improvement in the

(

)

Anigilaje EA

Department of Paediatrics,

Benue State University, Makurdi,

Benue State, Nigeria.

Email; demolaanigilaje@yahoo.co.uk

Tel: +2348033833839

Dzuachii DO

Department of Morbid Anatomy/

Histopathology,

Benue State University, Makurdi,

Benue State, Nigeria

having

a

similarly thickened

keratoses.

palms and soles. The disorder was

noticed in the proband, two weeks

after birth, initially with redden-

ing of the palms and soles, fol-

lowed by blistering and eventual

Keywords; Autosomal dominant,

Palmoplantar Hyperkeratosis, Girl-

child, Ichthyosis, Nigeria.

Introduction

autosomal dominant inheritance pattern in a girl child.

Palmoplan_,₂tar keratoderma (PPK) can be inherited or

Case presentation

1

acquired. The inherited PPKs can be diffuse, focal or

1

, 2

punctate. Diffuse PPK is associated with uniform in-

The skin lesion started in the 20-month old proband at

about 2 weeks of life with a uniform reddening of both

palms and soles. This was followed by blistering and

subsequent replacement by a thickened, waxy and yel-

lowish pale skin. The evolution occurred over a period

of one-and-half months. The soles of the feet had a simi-

lar morphology. There was no associated fever or any

other sign of inflammation. There is no dysmorphic fea-

ture and no abnormal thickening of the skin in any other

part of the body. There is no hyperhidrosis and the child

has dentition in consonant with her age. The teeth, the

hair and the nails are also normal. Other systems exam-

ined were normal. The thickened soles did not affect

standing and walking although the child is having a

slight difficulty in the flexing of the fingers. All the

1,2

volvement of the palmoplantar surface. Focal PPK

consists of localized areas of hyperkeratosis located

mainly on pressure point₁s_,₂_,a₃nd sites of recurrent friction

of the palms and soles.

Punctate keratoderma pre-

sents with multiple small, hyperkeratotic_,₂papules, spi-

1

cules, or nodules on the palms and soles. Further sub-

divisions of PPK are based on whether only an isolated

keratoderma is present ( simple or isolated PPK) or

whether other skin findings (non-volar skin, hair, teeth,

nails or sweat glands) are present and/or other organs are

1

involved. Acquired forms are divided into keratoderma

climactericum, internal malignancy-associated kerato-

derma, PPK due to inflammatory and reactive dermato-

ses, PPK caused by infections, dr₁u_,₄g-related PPK, and

th

systemic disease–associated PPK.

Reports on PPK

growth parameters were above the 50 percentile for the

have been scanty from Nigeria. Ichthyosis hystrix Curth

age and sex of the child.

–

Macklin, a rare autosomal dominant PPK disorder

characterized by extensive hyperke₅ratotic lesions and

There was no history of consanguinity between the par-

ents. The child is a product of term pregnancy, delivered

to a 32 –year- old Para.1, one alive mother via a sponta-

neous vertex delivery. Antenatal and delivery history

were not adversely affected. Birth weight was 2.9 kg.

Gross motor development was attained at the appropri-

ate ages. The teeth also erupted at the appropriate ages

PPK was described by Yusuf et al in Kano, Northen

6

Nigeria. Kulasekara reported a PPK with a periodonti-

tis, (Papillon-Lefèvre syndrome)₇in Ibadan, Southern

Nigeria. Ogunbiyi and Ademola also in Ibadan re-

ported an isolated focal palmoplantar keratoderma in

two Nigerian children. The present case illustrates an

7

5

Fig 1 Summarizes the family history of the proband.

Fig 1: Pedigree of the proband

6

5yrs

5

8 yrs

62 yrs 64 yrs 70 yrs 72 yrs

70 yrs

65 yrs

60 yrs

48yrs 70yrs 75 yrs 61 yrs

3

2 yrs

3

5 yrs

Key:

Unaffected female

Unaffected male

Affected female (proband)

Affected male (father)

Dead male

the dermis. For the proband, a high dose of daily oral

vitamin A (100,000 IU) was given together with twice

daily 12% salicylic acid ointment application. There is a

slight improvement in her keratoses and she is also

being closely observed for the side effects of vitamin A

including alopecia, hepatomegaly, excessive vomiting

and headache. The father was referred to the dermatolo-

gist. Genetic counselling about the disorder, the progno-

sis and its risk was discussed with the parents of the

child.

Dead female

The father had an identical affliction of the palms and

soles as her daughter but with fissures on his soles (Fig

2

and 3).

Fig 2: The palm and foot of the proband

Discussion

The diffuse PPK in the present study was diagnosed

histologically to be a non-epidermolytic and the isolated

type (NEPPK). The non-volar skin, hair, teeth, nails and

other organ systems were not involved. The presence of

the disorder in the proband’s father and its absence in

her paternal grandfather and grandmother may be that a

new mutation may have occurred in the proband’s father

or that either of the proband’s paternal grandparent has

demonstrated an incomplete pene₈trance for the PPK

gene or of a gonadal mosaicism. The absence of the

PKK in the proband’s paternal uncles-assuming grand-

parents incomplete penetrance- may have demonstrated

the fact the recurrence risk for PPK, like any other inher-

ited autosomal dominant disorder is 50% in each of the

Fig 3: The palm and sole of the proband’s father

8

other three uncles. Acquired PPK variants were

excluded as the conditions requis₁it_,₄e for their develop-

ment as earlier stated were absent.

Non-epidermolytic PPK (NEPPK) also known as Unna-

1

Thost disease is inherited in an autosomal dominant

fashion as illustrated in the proband. The condition may

manifest in the first few months of life but is usually

well developed by the age of 3-4 years. A well-

demarcated, thick, yellow hyperkeratosis is present over

the palms and soles. The surface of the keratoses is un-

even and an erythematous band is frequently present at

The father is often reluctant to have a handshake with

acquaintances because of the palmar keratoses. Painful

fissures on the soles also affect his gait. The father is the

only affected person amongst five male siblings. There

was no history of cancer-related deaths in the family.

1

the periphery of the keratoses. The keratoses of the pro-

The histological results of the several punch biopsies

taken from the soles of the child and her father revealed

a non-epidermolytic form of hyperkeratosis involving

band were however even and erythematous band was

absent. Other features of NEPPK that have been

described but which were absent in the proband include;

7

6

aberrant keratotic lesions₁ on the dorsum of the hands,

feet, knees, and elbows, a cobblestone hyperkeratosis

of the knuckles, excessive perspiration and thickened

nails. Low serum₉ vitamin A has been found in some

cases and Goette described the successful use of topi-

cal vitamin A. Histologic findings include orthokeratotic

hyperkeratosis associated with hypergra₁nulosis or hy-

pogranulosis and moderate acanthosis. Changes are

nonspecific and common to many varieties of kerato-

epidermolytic palmoplantar keratoderma (NEPPK) is

caused by mutation in the KRT1 gene, and a focal form

of NE₁P₀_,P₁₄K can be caused by mutation in the KRT16

gene.

The use of DNA analysis and gene mapping in the diag-

nosis of PPK can therefore not be over-emphasized. It is

well known that there is a minimal role for the use of

vitamin A in the treatment of NEPPK resulting from

1

derma. An absence of epidermolysis differentiates it

Keratin-1 gene mutation. Unfortunately, this diagnostic

1

from EPPK. The hyperkeratosis may explain the appro-

tool is lacking in many resource- limited countries.

PPK can cause difficulty with walking. Repeated fungal

infections and odour can also result from the thick skin

and sweating of the feet. The thick skin on the palms

may reduce sensitivity in the fingertips, impairing

manual dexterity. All these problems, together with the

unusual appearance can be stressful and may lead to

psychological difficulties. In many resource poor coun-

tries including Nigeria, PPK like any other chronic dis-

priateness of the keratolytic agents in the therapy of

PPK.

1

0

Epidermolytic PPK (EPPK) - also known as Vorner

PPK- is another common form of autosomal dominant

PPK and the clinical presentation simulates the NEPPK

1

, 10

Some clinical₁_,f₁e₀atures may help differentiate

NEPPK from EPPK. NEPPK may have a waxy ap-

pearance, compared with the dirty appearance of EPPK.

Hyperhidrosis and pitted keratolysis may also be present

1

order, may become stigmatized and

its erroneous

“supernatural cause” can cause disputes within the ex-

tended family structure. PPK may also be seen as “a

punishment for an ancestral sin “. The paediatrician can

thus serve to give appropriate and correct information

and genetic counseling.

1, 10

with NEPPK.

Furthermore, in NEPPK, secondary

dermatophyte infectio₁_,n₁₀s, resulting in maceration and

peeling, are common.

1

Progressive PPK (Greither disease, Transgrediens et

progrediens PPK) is also an autosomal dominant diffuse

isolated PPK. Onset also₁_,₁i₁s in early infancy but may

The most common therapeutic options for PPK only

result in short-term improvement and are fre₁quently

compounded by unacceptable adverse effects. Treat-

ment varies from saltwater soaks to topical keratolytics,

systemic retinoids, or reconstructive surgery with total

e₁xcision of the hyperkeratotic skin followed by grafting.

Topical keratolytics (e.g., salicylic acid , lactic acid,

occur later in childhood.

Clinically, diffuse PPK ex-

tends onto the dorsa of the hands and the feet

trangredient), with characteristic involvement of the

(

Achilles tendon, thus d₁i_,s₁t₁inguishing it clinically from

both NEPPK and EPPK.

1

Other diffuse PPK but which are inherited in an auto-

somal recessive pattern in₁_,c₁₂lude the Mal de Meleda and

the Nagashimi-type PPK.

urea ) are useful in patients with limited keratoderma.

Potent topical steroids with or without keratolytics₁is

useful in dermatoses with an inflammatory component.

Molecular knowledge of palmoplantar epidermis has

identified keratin 9 (K9) Keratin1 (K1) and Ke₁₃ratin 16

(

K16) in the supra-basal layers of epidermis. It thus

becomes obvious why mutations in the genes encoding

these proteins are associated with the skin disorders of

PPK. For example, epidermolytic palmoplantar kerato-

derma (EPPK) are caused by mutatio₁n_,₁₀i_,n₁₄ the keratin-9

Conclusion

The case has added to the pool of rather uncommon

reports of Palmoplantar hyperkeratosis from Nigeria.

gene (KRT9) on chromosome 17q12.

A mild form

of EPPK can be caused by mutation in₀_,the₁₄ keratin-1

Conflict of interest: None

Funding: None

1

gene (KRT1) on chromosome 12q.

Non -

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