PMC9871360_01
PMC9871360_02
Clinical features of IPP before and after treatment. (A1-A4) Widespread erythema, covered thick yellowish scales, and circular distributed pustules on the scalp, trunk, perineum, and extremities. (B1-B3) Pink macules with subtle white scales scattered over body, pustules are nearly invisible.
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F1
The initial rash was located on the scalp and hairline, manifesting as papules and pustules, accompanied by diarrhea with watery stools (Figures 1A1-A4). After treatment, it could be observed that erythema darkened, scales were decreased, and pustules were gradually absorbed (Figures 1B1-B3).
Imaging and histopathological features of IPP. (A) Features of IPP under dermoscopy. Under a reddish background, multiple punctate, annular, and hairpin-like vessels are shown by a red circle. (B) RCM showed neutrophil infiltrations among keratinocytes in the stratum spinosum, which was called Kogoj's spongiform pustules (red arrow). The yellow circle displays dyskeratotic cells. (C1) Hyperkeratosis, parakeratosis (red circle), acanthosis, formation of subcorneal pustules (Kogoj's spongiform) (yellow circle), and hemangiectasis with neutrophilic and lymphocyte infiltration in the papillary dermis (HE, x100). (C2) Subcorneal pustules (Kogoj's spongiform) distributed among acanthocytes (yellow circle) (HE, x 200).
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F2
The initial rash was located on the scalp and hairline, manifesting as papules and pustules, accompanied by diarrhea with watery stools (Figures 1A1-A4). Under the dermoscope, the uniformly distributed punctate, annular, and hairpin-like vessels are shown in a reddish background (Figure 2A). RCM showed hyperkeratosis with parakeratosis, stratum spinosum thickening accompanied by neutrophil infiltrations, and dilation of circuitous vessels in the superficial dermis (Figure 2B). Skin biopsy was performed selecting the lesion with pustules, and histopathological features include hyperkeratosis, parakeratosis, acanthosis, formation of subcorneal pustules, and hemangiectasis with neutrophilic and lymphocyte infiltration in the papillary dermis (Figures 2C1, C2). The IL36RN gene exons of E03 showed c.115 + 6T>C homozygous mutation, and c.227C>T:p.Pro76Leu heterozygous mutation on exons of E04 was also detected (Figures 3A1, A2). After treatment, it could be observed that erythema darkened, scales were decreased, and pustules were gradually absorbed (Figures 1B1-B3).
Gene mutations of IPP. (A1, A2) Gene IL-36RN pathogenic mutation sites. (B1-B3) Gene CARD14 heterozygous mutation sites.
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F3
The initial rash was located on the scalp and hairline, manifesting as papules and pustules, accompanied by diarrhea with watery stools (Figures 1A1-A4). The IL36RN gene exons of E03 showed c.115 + 6T>C homozygous mutation, and c.227C>T:p.Pro76Leu heterozygous mutation on exons of E04 was also detected (Figures 3A1, A2). For gene CARD14, mutation of c.2219 + 14T>A on exon E15 and c.2399-4A>G and c.2458C>T:p.Arg820Trp on exon E18 was analyzed with the heterozygous status (Figures 3B1-B3). After treatment, it could be observed that erythema darkened, scales were decreased, and pustules were gradually absorbed (Figures 1B1-B3).