Spot Diagnosis

Hereditary Palmoplantar Skin Lesions

Crisbety Pinho1, Joana N Santos2, Leonor Ramos3
1Department of Pediatrics, Coimbra Hospital and University Centre, Coimbra, Portugal, 2Department of Pediatrics, Baixo Vouga Hospital Centre, Aveiro, Portugal, 3Department of Dermatology, Coimbra Hospital and University Centre, Coimbra, Portugal

Address for Correspondence: Crisbety Pinho, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra. Avenida Dr Afonso Romão, 3000-602 Coimbra, Portugal.
Question :
A 2-year-old boy was referred to pediatric dermatology department with symmetrical orange/yellowish, diffuse, scaly palmoplantar hyperkeratotic lesions with erythematous borders involving dorsal surface of phalanges since his first year of life (Figures 1 and 2). There were no teeth or hair abnormalities nor history of cutaneous infections. His father, paternal aunt (Figure 3), and cousins had similar features.

Figure 1. Diffuse plantar keratoderma

Figure 2. Palmar keratoderma

Figure 3. Aunt's hands showing palmar keratoderma, with limited extension of the fingers.

What is the diagnosis?

Discussion :
The diagnosis of transgrediens hereditary palmoplantar keratoderma (H-PPK), with probable autosomal dominant transmission was made and he was started on topical emollients with urea to which he improved. His aunt underwent a skin biopsy, that confirmed non-epidermolytic palmoplantar keratodermas (PPK), and keratin 1 and 9 gene testing was done, where no mutations were identified. No further study was performed based on his family decision. PPK are conditions characterized by palmoplantar hyperkeratotic epidermal thickening.1,2,3 Sporadic and hereditary forms exist. H-PPK is characterized by an early onset of disease, positive family history and treatment resistance3,4 and can present as isolated form or with associated features (ectodermal defects or multisystemic involvement).1,2 H-PPK can be focal, striate, punctate or diffuse,1,2,3 and the latter may be classified as: without transgrediens (limited to palmoplantar surfaces), or transgrediens and progrediens, with lesions on the dorsal surfaces of acral regions, Achilles tendon or nails.1,2,3 Although the majority of PPK are not life-threatening, this is a chronic disease, with lifelong burden, both physically and psychologically.2
Diagnosis of PPK is made by clinical-based morphological classification and skin biopsy. If an inherited or syndromic disorder is suspected, genetic testing should be performed, for prognosis and for prenatal counseling and diagnosis.2 H-PPK are clinically and genetically heterogenous4 and diffuse PPK can be inherited in an autosomal dominant pattern, involving mutations in various genes, such as KRT1 or KRT9, DSG1, AQP5; or in a recessive dominant pattern, involving SERPINB57 and SLURP1 genes.1
Although lacking specific treatment, regular baths, emollients, topical keratolytics (such as urea or salicylic acid-based ointments), topical retinoids and mechanical removal of hyperkeratotic areas can be performed.2,3,4 Oral retinoids (acitretin, alitretinoin) are usually effective, but side effects must be taken into account.2 Dermatophyte or bacterial infections are common and should be diagnosed and treated with antifungal and antibacterial agents.2

References :
  1. Sakiyama T, Kubo A. Hereditary palmoplantar keratoderma: clinical and genetic differential diagnosis. J Dermatol. 2016;43:264-274.
  2. Has C, Technau-Hafsi K. Palmoplantar keratodermas: clinical and genetic aspects. J Dtsch Dermatol Ges. 2016;123-140.
  3. Thomas BR, O'Toole EA. Diagnosis and Management of Inherited Palmoplantar Keratodermas. Acta Derm Venereol. 2020;100:168-176.
  4. Schiller S, Seebode C, HC Hennies, Giehl K, Emmert S. Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease. J Dtsch Dermatol Ges. 2014; 781-788.

Correct Answers : yes  100%

Last Shown : Jul 2022
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