| | Disease | Author | Publication date | Number, sex, and age, y | Clinics | Pathology | Accompanying signs or disease |
| | Circumferential skin creases Kunze type | Wouters et al. [7] | 2011 | 8, 6 M/2 F, NR | Circumferential creases, cleft palate, typical face, intellectual disability, and growth retardation | Thickened, closely packed collagen bundles in deep dermis; normal distribution of elastic fibers | None |
| | Unusual type of pachyonychia congenita or a new syndrome | Gönül et al. [8] | 2013 | 1, M, 30 | Follicular hyperkeratosis, bilateral blepharitis, epidermal cysts localized to the axillae, painful focal palmoplantar keratoderma, oral leukokeratosis, complete loss of teeth, nails with proximal layering, and mild mental retardation | — | Deficiency of immunoglobulin A and squamous cell cancer |
| | CANDLE syndrome | Torrelo et al. [9] | 2010 | 4, 1 M/3 F, 2–14 | Early onset recurrent fever, annular violaceous plaques, persistent violaceous eyelid and lip swelling, delayed physical development, progressive lipodystrophy, hepatomegaly, and a range of visceral inflammatory manifestations | An inflammatory reaction comprising both mature neutrophils and some mononuclear cells without vasculitis and perivascular and interstitial infiltrates of atypical mononuclear cells of myeloid lineage | Arthralgia, conjunctivitis, nodular episcleritis, epididymitis, ear and nose chondritis, prominent abdomen, aseptic meningitis, parotitis, interstitial lung disease, nephritis, otitis, acanthosis nigricans, and hirsutism. Increased ESR and CRP, hypochromic anemia, increased platelet counts, elevated AST and ALT, increased triglyceride levels, and basal ganglia calcifications |
| | PASH syndrome | Braun-Falco et al. [10] | 2012 | 2, M, 34, 44 | Pyoderma gangrenosum, acne, and suppurative hidradenitis, lacked any flare of arthritis. No mutation in PSTPIP1 | Necrotizing suppurative and focally fibrosing dermatitis with severe neutrophilic infiltration, consistent with PG | None |
| | PAPASH syndrome | Marzano et al. [11] | 2013 | 1, F, 16 | Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa. Mutations in the PSTPIP1 | Consistent with PG | None |
| | Acquired reactive digital fibroma | Plaza et al.
[12] | 2013 | 5, M, 54–68 | 2–6 weeks after the injury a nontender, well-delineated, immobile nodular mass on the distal portion of the digits appeared | Composed of short fascicles of benign-appearing fibroblastic spindle cells with vascularized and somewhat myxoid stroma. There were no mitotic figures in the lesion | None |
| | Onychocytic matricoma | Perrin et al. [13] | 2012 | 5 | Slightly raised localized longitudinal melanonychia (pachymelanonychia) | Endokeratinization originating in the deep portion of the tumor and nests of prekeratogenous and keratogenous cells in concentric arrangement | None |
| | Onychocytic carcinoma | Perrin et al. [14] | 2013 | 1, M, 52 | 2 years of history of a verrucous band of the lateral nail plate on the fourth finger of left hand and marked curving with a yellowish discoloration | Well-limited in situ epithelial tumor of the matrix and nail bed | None |
| | Acral histiocytic nodules | Patel et al. [15] | 2012 | 1, F, 57 | Pale-yellow, firm, well demarcated multiple nodules which were 5–10 mm in size and located around the interphalangeal joints on both the extensor and flexural surfaces of hands. The number of lesions had gradually increased; some had enlarged and none had resolved spontaneously | Well-circumscribed, hypercellular nodules extending into the dermis and subcutis with small amounts of fibrosis were seen. Abundance of lymphocytes and histiocyte-like cells with occasional multinucleated cells. No lipid or haemosiderin pigment, no cholesterol clefts, and no ground-glass or foamy appearance of cells; mitoses were rare and no xanthoma cells were seen. CD68 positivity and S100 negativity | None |
| | Saurian papulosis | Molina-Ruiz et al. [16] | 2013 | 2, 1 F and 1 M, 27, 82 | Widespread, symmetric erythematous, flat, discrete papules with a polygonal shape and fine scaling resembling the skin of lizards, crocodiles, and dinosaurs. No facial, mucosal, nail, or palmoplantar involvement.
The teeth and hair were normal | Well-demarcated areas of compact eosinophilic orthokeratotic hyperkeratosis overlying a slightly acanthotic epidermis | None |
| | Symmetrical acrokeratoderma |
Fan et al. [17] |
2010 | 29, 25 M and 4 F, 9–54 | Symmetric, brown hyperkeratotic patches on the acral parts of the extremities. Worsened in summer and improved spontaneously in winter, becoming whitish with mild swelling after 3–6 minutes of water immersion or sweating | Hyperkeratosis, acanthosis, and superficial perivascular lymphohistiocytic infiltration | None |
| | Confetti-like macular atrophy | Aksoy et al.
[18] | 2009 | 2, F, 34, 42 | 2–5 mm, hypopigmented, atrophic macules at the same level with surrounding on the upper trunk and the extensor surface of the upper limbs | Histopathological features that resemble both atrophoderma and anetoderma | None |
| | Skin spicules | Hu et al. [19] | 2009 | 1, M, 43 | Several hundred 1 to 2 mm white hyperkeratotic, perifollicular papules located primarily in the axillae and popliteal fossae | Mild papillary epidermal acanthosis with hyperkeratosis, consistent with early seborrheic keratosis | Cutaneous marginal zone B-cell lymphoma |
| | Erythema papulosa semicircularis recidivans | Song et al. [20] | 2012 | 9, M, 24–39 | Centrifugally expanding semicircular erythematous plaques recurring every year in warm seasons. Exacerbating after excessive sweating, mild pruritus was generally accompanied, resolution of disorder after 2–5 relaps | Superficial perivascular dermatitis with mild hyperkeratosis, slight edema of the papillary dermis, and superficial sparse perivascular lymphocytic infiltration | None |
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