Hereditary Acrokeratotic Poikiloderma

Weary, Peyton E.

doi:10.1001/archderm.1971.04000160059010

Cited by 53 publications

(19 citation statements)

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“…The relation between EBS-MP and the hereditary poikilodermic bullous acrokeratosis of Weary-Kindler [12][13][14][15][16][17] poses a difficult nosologic problem. According to Larregue et al [ 15] this latter syndrome appears heterogeneous, its main clinical features represented by bullous lesions and poikilodermic skin changes.…”

Section: Discussionmentioning

confidence: 99%

Epidermolysis bullosa simplex with Mottled Pigmentation

Combemale

Kanitakis²

1994

Dermatology

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Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a rare genodermatosis of which only 4 pedigrees have so far been reported. We present herein a new family with EBS-MP comprising a peculiar punctate digital keratoderma. The propositus was an 18-year-old patient who had suffered since birth from posttraumatic bullae, followed by mottled pigmentation, plantar keratosis, nail dystrophy and peculiar punctate keratoses of the fingers. Histology, immunofluorescence and electron microscopy of a bullous lesion showed an intraepidermal cleavage and an increased number of melanosomes within basal keratinocytes, dermal macrophages and Schwann cells. The precise genetic defect responsible for EBS-MP is not known but could be due to two distinct, closely linked mutations. The nosologic relationship between EBS-MP and other forms of EBS as well as cases of hereditary bullous poikilodermic acrokeratosis is discussed.

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Section: Discussionmentioning

confidence: 99%

Epidermolysis bullosa simplex with Mottled Pigmentation

Combemale

Kanitakis²

1994

Dermatology

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“…Seventeen years after the original description, Weary et al described an autosomal dominant pedigree with clinical overlap. 8 The similarities led to the introduction of the term Weary-Kindler syndrome and in 1981, a similar autosomal dominant pedigree was reported. 9 In 1985, an autosomal recessive pedigree that most closely resembled the original Kindler case was published.…”

Section: Historical Background Of Kindler Syndromementioning

confidence: 94%

Kindler syndrome: a focal adhesion genodermatosis

Lai-Cheong

Tanaka

Hawche

et al. 2009

British Journal of Dermatology

100

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Kindler syndrome (OMIM 173650) is an autosomal recessive genodermatosis characterized by trauma-induced blistering, poikiloderma, skin atrophy, mucosal inflammation and varying degrees of photosensitivity. Although Kindler syndrome is classified as a subtype of epidermolysis bullosa, it has distinct clinicopathological and molecular abnormalities. The molecular pathology of Kindler syndrome involves loss-of-function mutations in a newly recognized actin cytoskeleton-associated protein, now known as fermitin family homologue 1, encoded by the gene FERMT1. This protein mediates anchorage between the actin cytoskeleton and the extracellular matrix via focal adhesions, and thus the structural pathology differs from other forms of epidermolysis bullosa in which there is a disruption of the keratin intermediate filament-hemidesmosome network and the extracellular matrix. In the skin, fermitin family homologue 1 is mainly expressed in basal keratinocytes and binds to the cytoplasmic tails of beta1 and beta3 integrins as well as to fermitin family homologue 2 and filamin-binding LIM protein 1. It also plays a crucial role in keratinocyte migration, proliferation and adhesion. In this report, we review the clinical, cellular and molecular pathology of Kindler syndrome and discuss the role of fermitin family homologue 1 in keratinocyte biology.

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“…She had been diagnosed as having “Weary‐Kindler” syndrome, which at the time was poorly understood and was assigned based on clinical features and medical history. KS has since been differentiated from Weary's hereditary acrokeratotic poikiloderma 26 and a form of epidermolysis bullosa.…”

Section: Case Reportmentioning

confidence: 99%

Kindler Syndrome and Periodontal Disease: Review of the Literature and a 12‐Year Follow‐Up Case

Wiebe

Petricca

Häkkinen

et al. 2008

Journal of Periodontology

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Background-The association of aggressive periodontitis with Kindler syndrome was based on a single case in 1996 and later confirmed with a larger population. Since then, significant research has greatly increased our understanding of the molecular pathology of this disorder. We review recent advances in the molecular mechanisms of the syndrome and present a maintenance case report of a patient who has been followed in our clinic.

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Hereditary Acrokeratotic Poikiloderma

Cited by 53 publications

References 0 publications

Epidermolysis bullosa simplex with Mottled Pigmentation

Epidermolysis bullosa simplex with Mottled Pigmentation

Kindler syndrome: a focal adhesion genodermatosis

Kindler Syndrome and Periodontal Disease: Review of the Literature and a 12‐Year Follow‐Up Case

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