Herediatry punctate palmoplantar keratoderma - A clinical study

Introduction

Autosomal dominant type of inheritance polmoplantaris papulosa which was named as Buschke Ficher′s Brauer′s disease (BFED) in 1913,[1],[2] palmoplantar keratoderma papulosa, punctata and disseminata were established to be different names for a single entity.[3] If yellow waxy plaques of focal palmoplantar keratoderma (PKK) were associated with scattered punctate PPK then the variant was named as Brunnauer Fuhs Keratoderma (BFK).[4] Relationship of hereditary polmoplantar keratoderma (HPPK) with hard manual labour was reported.[1],[6] Clinically pinpoin′e crateriform/keratotic scattered diffusely, were characteristic of HPPK. Deuternopia, deiteranomalia, spastic paralysis, anodontia, HU B-27 associated arthropathy and freckle associated with atopy was reported.[7] Keratosis punctata of palmar creases (KPPC) was considered a morphological variant of HPPK and was reported to be associated with ichthyosis.[8],[9]

Materials and Methods

28 patients of punctate PPK were selected over a period of 2 years in our department of dermatovenereology at Rajindra Hospital Patiola. A detailed history was taken from each patient, with special emphasis on age of onset family history and signs of atopy, seasonal variation and any abnormalities of nail and hair. 28 cases were divided into two genetic groups. Only PPK was seen in group A (major genetic defect) while in Group B, PPK (minor genetic defect) was associated with AD/ichthyosis.

Results

There were 28 cases of HPPK and their age of onset ranged from 13-25 years, while age at presentation varied from 25-48 years. As seen in [Table - 1]. 11/28 cases belonged to group A. i.e. genetic disorder with PPK as major feature and family history of PPK was positive in 7/11 cases. 5/11 had BEB pattern with diffusely scattered, 2-10mm, round to oval, translucent, keratotic / crateriform papules aggregated more on frictional sites of palms and soles. 1 /11 patients had >than 1 cm crateriform papules with warty surfaces over pressure areas precipitated after hard manual work and this case was of porokeratotic punctate PPK. 5/11 revealed Brunauer Fuhs keratoderma (BFK) i.e in addition to similar scattered punctate papules, focal yellow waxy hyperkeratotic plaques over head of metatarsal were dermatitis and 5, autosomal dominant ichthyosis (ADI). Family history of PPK was present in3/1 7 cases. 6/12 cases of atopic dermatitis revealed focal plaques of PPK with punctate keratoderma of palmar creases (KPPC) 3 had focal plaques over metatarsal heads with scattered punctate papules (BFK′s type) and rest 3 had KPPC alone. 3/5 cases of ADI revealed KPPC alone and rest 2 had KPPC with additional diffuse PPK. Nail changes in decreasing order were half moon distal nail plate dystrophy (5), subungual hyperkeratosis (5), longitudinal ridge (3), thickened nail plate (3), medial canaliformis (2), lunular changes (2), onychogryphosis (1), transverse ridge (1 )and koilonychia (1). Associated sacroilitis was confirmed by X-rays in one case each of group A and group B.

Discussion

Hereditary punctate PPK were observed in both group A. i.e genetic disorder with PPK as major feature and group B with PPK as minor. Clinical pattern in group B was different as 9/12 of atopic dermatitis and 5/5 of ADI revealed KPPC, which was not observed in group A. However, BFK pattern was seen in both groups i.e 5 cases of group A and 3 cases of group B. HLA-B27 type arthritis with sacroilitis was associated in one case each of BFK pattern of group A and group B in present study. 1/28 cases revealed more than 1 cm keratotic papule with verrucous surface and peripheral groove and it was a case of porokeratotic punctate PPK.

Age of onset was earlier in group A than in group B. Family history was more positive in group A i.e 7/11 than in group B with only 3/17 cases. Positive family history in lesser number of patients in group B could be due to sporadic cases, asymptomatic nature and late onset thus leading to ignorance about it in the relatives. Dual influence of genetic and environmental factors such as hard manual work, friction and extremes of climate triggering HPPK were observed in present study. Associated disorders were reported more in sporadic cases than in familial cases but we did not observe such an association. Prominent nail changes of PPK aided us in clinical diagnosis.