Postępujący rogowiec dłoni i stóp z transgrediencją – opis przypadku zespołu Greithera

Transgrediens et progrediens palmoplantar keratoderma or Greither’s disease is a rare type of inherited non-epidermolytic palmoplantar keratoderma characterized by diffuse involvement of palms and soles with an erythematous border that usually presents after 2 years of age and gradually resolves in later life [1]. We present a case of Greither’s disease in a male child with classical features but without family history.
A 7-year-old male child was brought to the dermatology outpatient department by his parents with complaints of thickening of the skin of the palms and soles and elevated lesions on the buttocks, knees and elbows for the last 1 month. The lesions began from the center of the palms and soles and had increased in size and thickness during this period. There was no history of excessive sweating of the palms and soles. The boy was born to parents with no history of consanguinity. Antenatal and birth history was uneventful and he showed normal developmental milestones. He had two healthy female siblings. There was no history of similar disease in the family. On examination, diffuse palmoplantar keratoderma with an erythematous border with extension to the dorsum of hands and feet including the digits, ventral wrist and the area overlying the Achilles tendon was present. Erythematous plaques were also seen over the bilateral knees, elbows, lateral malleoli and buttocks. Hair, teeth, nails and mucosae were normal. Systemic examination was unremarkable. Routine investigations were within the normal range. Skin biopsy from the left palm showed orthokeratosis, acanthosis and slight mononuclear infiltrate. Genetic analysis and electron microscopy could not be done due to financial considerations and lack of facilities. Based on the clinical features of the patient and supported by histopathology, a diagnosis of Greither’s disease was made.
Transgrediens et progrediens palmoplantar keratoderma was first described in 1952 by Greither by the name of keratosis extremitatum hereditaria progrediens [2]. The disease is transmitted in an autosomal dominant fashion with variable penetrance. It was found in 10 out of 25 members in six generations in a family [3]. Missense mutation in the genes coding for keratin 1 has been described in some cases [4]. Clinical features include non-epidermolytic diffuse keratoderma of palms and soles with erythematous border and extension to the dorsal aspect (transgrediens) and the flexural aspect of the wrist...


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