Analysis of Skin-Derived Amniotic Fluid Cells in the Second Trimester; Detection of Severe Genodermatoses Expressed in the Fetal Period

Akiyama, Masashi; Holbrook, Karen A.

doi:10.1111/1523-1747.ep12398465

Cited by 22 publications

(8 citation statements)

References 29 publications

(31 reference statements)

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“…From the results of this study, it may be said that, along the same neoplastic spectrum from trichoblastoma to BCC, one end point representing classic trichoblastoma manifests as a cluster of fibroepithelial units or a single unit encapsulated by a thick fibrous tissue with the pop-out or shell-out phenomenon, which harbors numerous Merkel cells and expresses CK15. In other words, classic trichoblastomas satisfactorily possess the characteristics of follicular germinative cells because the bulge is a pool of hair follicle stem cells and Merkel cells, [27][28][29] and CK15 is a relative specific marker of hair follicle stem cells in the bulge. 30,31 Along the same neoplastic spectrum, additional mutations beyond those in the patched gene may be a requisite for the shift from trichoblastoma to BCC.…”

Section: Discussionmentioning

confidence: 99%

Merkel Cell-Poor Trichoblastoma With Basal Cell Carcinoma-Like Foci

Misago

Satoh²,

Miura³

et al. 2007

The American Journal of Dermatopathology

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We reexamined 11 cases of trichoblastoma, and two cases of trichoblastoma with basal cell carcinoma (BCC)-like foci were found. In these two trichoblastomas with BCC-like foci, the BCC-like foci were often localized in peripheral or deep areas of lesions extending out of the fibrocytic stroma. Immunohistochemistry was performed in five conventional trichoblastomas and in two trichoblastomas with BCC-like foci, using antibodies against CK20 and CK15. No CK20-positive Merkel cells and no expression of CK15 were seen in any neoplastic aggregations of the two trichoblastomas with BCC-like foci. In contrast, increased numbers of Merkel cells and positive staining for CK15 were observed in all five trichoblastomas without BCC-like foci. The five trichoblastomas without BCC-like foci included two trichoblastomas with a popped out or shelled out appearance, which characteristically had a thick fibrous capsule surrounding the fibrotic stroma, demonstrating numerous Merkel cells in the aggregations. Some trichoblastomas may undergo mutations, resulting in the development of foci of BCC and in the loss of the expression of CK15 as well as the disappearance of Merkel cells.

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Section: Discussionmentioning

confidence: 99%

Merkel Cell-Poor Trichoblastoma With Basal Cell Carcinoma-Like Foci

Misago

Satoh²,

Miura³

et al. 2007

The American Journal of Dermatopathology

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“…18 In HI skin, epidermal morphogenesis already shows significant alterations in utero. 20,[27][28][29][30][31] Affected neonates usually show the most severe, life-threatening symptoms such as large, thick, platelike scales over the whole body, ectropion, eclabium, and flattened ears from birth. 32 Pa-tients with HI usually die during the first few weeks of life from secondary infection, severe anemia, dehydration, circulatory disturbance, or renal failure.…”

mentioning

confidence: 99%

Expression of the Keratinocyte Lipid Transporter ABCA12 in Developing and Reconstituted Human Epidermis

Yamanaka

Akiyama

Sugiyama-Nakagiri

et al. 2007

The American Journal of Pathology

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Serious defects in the epidermal keratinocyte lipid transporter ABCA12 are known to result in a deficient skin lipid barrier, leading to harlequin ichthyosis (HI). HI is the most severe inherited keratinizing disorder and is frequently fatal in the perinatal period. To clarify the role of ABCA12, ABCA12 expression was studied in developing human skin and HI lesions artificially reconstituted in immunodeficient mice. By immunofluorescent study, ABCA12 was expressed in the periderm of the early stage two-layered human fetal epidermis. After formation of a three-layered epidermis, ABCA12 staining was seen throughout the entire epidermis. ABCA12 mRNA expression significantly increased during human skin development and reached 62% of the expression in normal adult skin, whereas the expression rate of transglutaminase 1, loricrin, and kallikrein 7 remained low. We transplanted keratinocytes from patients with HI and succeeded in reconstituting HI skin lesions in immunodeficient mice. The reconstituted lesions showed similar changes to those of patients with HI. Our findings demonstrate that ABCA12 is highly expressed in fetal skin and suggest that ABCA12 may play an essential role under both the wet and dry conditions, including the dramatic turning point from a wet environment of the amniotic fluid to a dry environment after birth.

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“…Recent reports have noted long-term survivors of harlequin ichthyosis, [14][15][16][17][18][19][20] including a case which progressed to lamellar ichthyosis (LI), 15,20 stimulating a controversy over the difference between harlequin ichthyosis and LI. Ultrastructurally, the cornified cell envelope seems to be normally formed in harlequin ichthyosis, [6][7][8][9][10][11][12]21 in contrast with the abnormal cornified cell envelope seen in LI. [22][23][24] Recent reports have revealed a normal distribution of major cornified cell envelope precursor proteins (involucrin, small proline-rich proteins 1 and 2, and loricrin) and transglutaminase 1 in the epidermis of harlequin ichthyosis.…”

Section: Harlequin Ichthyosismentioning

confidence: 89%