Palmoplantar keratoderma in a middle-aged male

Abstract

Figures

Figure 1 Clinical photograph demonstrating diffuse thickened plaques over the palms and soles of the feet.

Full text

Clinical presentation

A 50-year-old male presented with thick, diffuse plaques over the palms and soles of the feet and a congenital form of sensorineural hearing loss (Fig 1). He was unable to work and required a full-time carer for activities of daily living due to limited dexterity and pain associated with fine movements of the hands and feet. There was a strong family history of palmoplantar keratoderma with a biological father, brother, daughter, 2 nephews and a paternal grandmother also being affected. On examination, there was evidence of honeycomb pattern of hyperkeratosis over the palms and soles of the feet and a “starfish”-shaped hyperkeratosis over the knuckles causing digital constricting bands. There were no ocular defects.Fig 1. Figure 1 Clinical photograph demonstrating diffuse thickened plaques over the palms and soles of the feet.

Question 1: What is the most likely diagnosis?

• A.Olmsted syndrome
• B.Vohwinkel syndrome
• C.Huriez syndrome
• D.Punctate keratoderma
• E.Hereditary painful callosities

Answers:

• A.Olmsted syndrome—Incorrect. Olmsted syndrome is not associated with sensorineural hearing loss.
• B.Vohwinkel syndrome—Correct. The classical presentation of Vohwinkel syndrome includes a honeycomb pattern of hyperkeratosis over the palms and soles of the feet, sensorineural hearing impairment and a “starfish”-shaped hyperkeratosis typically over the knuckles which may cause digital constricting bands.1
• C.Huriez syndrome—Incorrect. This condition presents with the triad of congenital sclero-atrophy, hypoplastic nails, and palmoplantar keratoderma.
• D.Punctate keratoderma—Incorrect. This condition presents with small round bumps along the palms and soles as opposed to thick, diffuse plaques.
• E.Hereditary painful callosities—Incorrect. This condition presents with keratotic lesions over pressure points over the palms and soles; a pattern not demonstrated here.

Question 2: Which of the following is not a common complication of this syndrome?

• A.Peridontitis
• B.Psychologic distress
• C.Secondary skin infections
• D.Pseudoainhum (digital constricting bands)
• E.Sensorineural hearing loss

Answers:

• A.Peridontitis—Correct. Peridontits is not a complication of Vohwinkel syndrome; however, it may be found in Papillon-Lefevre syndrome.
• B.Psychologic distress—Incorrect. Patients with Vohwinkel syndrome often report psychological distress due to increased morbidity and pain associated with their condition.2
• C.Secondary skin infections—Incorrect. Vohwinkel syndrome may be complicated by secondary skin infections due to breaks in the skin.2
• D.Pseudoainhum (digital constricting bands)—Incorrect. Hyperkeratosis in Vohwinkel syndrome may cause constricting bands (known as pseudoainhum) which can result in autoamputation of the digits.3
• E.Sensorineural hearing loss—Incorrect. This is a common complication found in the classical variant of Vohwinkel syndrome.2

Question 3: A mutation in which of genes and correlating protein is associated with this syndrome?

• A.Gap junction protein beta 2 (GJB2 gene); connexin 26 protein2
• B.Gap junction protein beta 2 (GJB2 gene); protein C
• C.TRPV3 gene; connexin 26 protein
• D.p53 gene; p53 tumour suppressor protein
• E.Fibulin-5 gene; elastin

Answers:

• A.Gap junction protein beta 2 (GJB2 gene); connexin 26 protein—Correct. A mutation in the GJB2 gene which encodes connexin 26 is associated with Vohwinkel syndrome.2^,^4
• B.Gap junction protein beta 2 (GJB2 gene); protein C—Incorrect. The GJB2 gene does not encode for protein C.
• C.TRPV3 gene; connexin 26 protein—Incorrect. The TRPV3 is associated with Olmsted syndrome and does not encode connexin 26.
• D.p53 gene; p53 tumour suppressor protein—Incorrect. The p53 gene mutation is not associated with Vohwinkel syndrome.
• E.Fibulin-5 gene; elastin—Incorrect. The fibulin -5 gene which encodes for elastin is associated with a form of Cutis Laxa, not Vohwinkel syndrome.

Conflicts of interest

None disclosed.