Palmoplantar keratoderma and associated syndromes

Itin, Peter; Lautenschlager, Stephan

doi:10.1016/s1085-5629(05)80012-4

Cited by 28 publications

(14 citation statements)

References 72 publications

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“…The changes in the distribution of pigment in the keratinocytes associated with changes in the epidermopoiesis (keratoderma) suggest that the primary failure in this condition lies in the keratinocytes, which would produce hypopigmentation through different pathophysiologic mechanisms. We do not pose the other palmoplantar hypopigmentation (9–11) and keratoderma, both congenital, associated with different syndromes (12) as a differential diagnosis, since the clinical manifestations are different. This is the second reported case of this disease, and the first case in which the studies presented lead us to suggest that this is a primary condition of the keratinocyte, and that on one hand the disorder lies in the transportation of the melanosomes from the melanocytes to the keratinocytes, and on the other hand that there is an impairment of the mechanisms that regulate epidermopoiesis.…”

Section: Discussionmentioning

confidence: 99%

Cole Disease: Hypopigmentation with Punctate Keratosis of the Palms and Soles

Vignale

Yusín

Panuncio

et al. 2002

Pediatric Dermatology

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Cole disease is an uncommon disorder characterized by distinctive cutaneous hypopigmentation and punctate keratosis of the palms and soles. It is a congenital skin disease with an autosomal dominant inheritance pattern. We report two patients from a family with 15 members, 5 of whom were affected. One of the patients had both types of lesions since birth, while in the other they arose in the first months of life. We studied the pedigree, histopathology, immunohistochemistry, and electron microscopy findings of the hypopigmented macules with the patients' normal skin used as a control. The pedigree showed involvement of both genders, with a Mendelian autosomal dominant inheritance pattern with phenotypic variability in the family. Immunohistochemistry showed a reduction in the melanin pigment in the keratinocytes and normal pigmentation in the melanocytes. Ultrastructural studies showed a strong contrast between the large number of melanosomes in the body and dendrites of the melanocytes, in contrast with the small number of these organelles in the neighboring keratinocytes. These findings suggest that this disease is a primary congenital disorder of the transfer mechanisms of the melanosomes from melanocytes to keratinocytes in hypopigmented lesions, associated with abnormal epidermopoiesis in the punctate hyperkeratosis.

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Section: Discussionmentioning

confidence: 99%

Cole Disease: Hypopigmentation with Punctate Keratosis of the Palms and Soles

Vignale

Yusín

Panuncio

et al. 2002

Pediatric Dermatology

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“…Non‐epidermolytic palmoplantar keratoderma (NEPPK) refers to frequent but heterogeneous disorders of keratinization characterized clinically and histologically by marked diffuse or circumscribed epidermal thickening (hyperkeratosis) on the palms and soles without intraepidermal blistering (epidermolysis). Several classifications of inherited NEPPK have been proposed 1,2 . They are based on clinical and biological features such as mode of inheritance, age at onset, distribution of the hyperkeratosis, ultrastructural and biochemical findings, association with other skin or ectodermal abnormalities, and presence of additional non‐ectodermal features (e.g.…”

mentioning

confidence: 99%

Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome

Martín¹,

Toutain²,

Guillen

et al. 2000

British Journal of Dermatology

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We report a French pedigree with members having an inherited combination of non-epidermolytic palmoplantar keratoderma (NEPPK) and sensorineural deafness. The penetrance of both features was incomplete. Additional ectodermal defects were absent. The expression of numerous epidermal proteins (keratins, fillagrin, cornified envelope proteins, intercellular junction proteins including connexin 26, and loricrin) defined with immunolabelling was normal in the proband. The combination was shown to be associated with the A7445G point mutation in the mitochondrial genome (mtDNA). This mutation is responsible for a subtype of NEPPK which is so far the only mtDNA mutation-associated keratoderma.

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“…There is a large and increasing number of PPK with associated diseases [4], but only one case report has identified the association of PPK with leukokeratosis anogenitalis [1]. Differential diagnosis in the present case includes white sponge nevus, which is characterized by spongy lesions mostly of the oral mucosa.…”

Section: Discussionmentioning

confidence: 85%

Palmoplantar Keratoderma and Leukokeratosis anogenitalis: The Second Case of a New Disease

Lautenschläger

Pittelkow

1998

Dermatology

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An increasing number of syndromes with palmoplantar keratoderma (PPK) with associated diseases are being identified, representing a wide spectrum of distinct entities. At present only one case report has described the combination of marked anogenital leukokeratosis with diffuse PPK evolving in a collodion baby. We report a patient with a diffuse, nonprogressive PPK in combination with an intermittently pruritic, slowly progressive anogenital leukokeratosis. Hyperkeratosis of the perineal area was most pronounced and extended to the distal portion of the anal mucosa. The opalescent lesion was also visualized at the margin of the major labia. Vulvar structures were not otherwise involved or dystrophic. There were no signs or symptoms of ectodermal dysplasia. Specifically, the nails were normal and showed no signs of pachyonychia congenita. Other differential diagnoses included dyskeratosis congenita and white sponge nevus, which may be associated with anogenital leukokeratosis, but a keratoderma is not associated with these entities. Keratin immunocytochemistry showed marked expression of suprabasal K17 and absence of K6 and K16. Further examination of the initial case described by Itin and Rufli demonstrated the same expression pattern and supports the contention that these two cases represent the same entity.

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Palmoplantar keratoderma and associated syndromes

Cited by 28 publications

References 72 publications

Cole Disease: Hypopigmentation with Punctate Keratosis of the Palms and Soles

Cole Disease: Hypopigmentation with Punctate Keratosis of the Palms and Soles

Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome

Palmoplantar Keratoderma and Leukokeratosis anogenitalis: The Second Case of a New Disease

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