Table 2.
A brief literature review of case reports on DCM.
| Disease Onset |
Follow-Up Time | Anaphylaxis | Clinical Features and Outcome | |
|---|---|---|---|---|
| Yasuda T. and Kukita A. 1962 [64] | At birth | 3 months | NA | Hemorrhagic bullous lesions, diffuse brown pigmentation of the skin Episodes of severe fever and dyspnea No evidence of SM Death at 3 months of age |
| Allison J. 1967 [65] | At birth | 8 days | NA | Generalized blistering, erythema Death at 8 days of age |
| Orkin et al., 1970 [63] | 5 months | 3 years | Once, 30 min after a meal | Generalized erythema, blistering, thickened skin No evidence of SM Partial improvement of skin lesions |
| Klaber M. et al., 1976 [66] | 6 months and 2 months |
25 years and 3 months |
NA | Two cases Persistently thickened skin and pronounced Dermographism Erythematous, leathery skin |
| Harrison P. et al., 1979 [67] | 20 days | 4 years | NA | In the infantile period, erythema, blistering, and diffuse thickening of the skin with a leather-like appearance At the age of 4 years, there is slightly erythematous and thickened skin in some areas |
| Willemze R. et al., 1980 [60] | At birth | 25 years | None | Persistent generalized erythema since birth Cutaneous tumors with MC infiltration on the arms and legs No evidence of SM |
| Olgun N. et al., 1993 [68] | 5 months | NA | NA | Widespread bullous eruptions, small papules over the entire skin surface, and erythematous rash Intermittent flushing and fever; intense itching; MC infiltrates in BM After 7 months, some improvement |
| Shah P. et al., 1998 [39] | At birth | 4 months | NA | Diffuse bullae Death at the age of 5 months due to bacterial endocarditis, pneumonia, and ascites |
| Murphy M. et al., 1999 [69] | At birth | 17 months | NA | Generalized erythema, blistering Generalized lymphadenopathy Death at the age of 17 months |
| Enomoto U. et al., 1999 [70] | At birth | 3 years | NA | Generalized brown, thickened leathery skin, and blistering No evidence of SM At the age of 36, there was slight blistering and hyperpigmentation |
| Waxtein L. et al., 2000 [71] | 3 months | NA | NA | At the age of 3 months, generalized hyperpigmented skin with intense pruritus At the age of 10, diffuse infiltrated and hyperpigmented plaques on the trunk and extremities, and papular and yellowish nodules on the scalp and ears MC infiltrates BM |
| Tang X. et al., 2004 [53] | 4 months | 2 years | NA | Familial DCM with the A533D mutation Generalized pruritus of the skin and blistering on the scalp At the age of 2 years, the patient had only a solitary yellow-brown papule The patient’s father, paternal uncle, paternal grandfather, and paternal great aunt were diagnosed with DCM None of the family members had SM |
| Kinsler V. et al., 2005 [72] | 10 weeks | 6 years | NA | At the age of 10 weeks, there was an erythematous rash on the head, neck, and shoulders, thickened skin, and marked dermographism At the age of 6 years, small patches of urticaria |
| Walker T. et al., 2006 [73] | At birth | 6 months | NA | Pachydermia, erythrodermia, dry skin and blisters |
| Duckworth A. et al., 2009 [74] | At birth | 5 years | NA | Male fraternal twins Erythema, pink-brown macules and papules, diffusely thickened skin No systemic involvement Flushing, pruritus, and abdominal pain |
| Ghiasi M. et al., 2011 [75] | At birth | 1 month | None | Generalized erythema, thickened skin, scattered nodules, and hemorrhagic bullae at birth Serum tryptase level: 6 ng/mL Hepatosplenomegaly Death at the age of 1 month due to an unknown reason |
| Kleewein K. et al., 2011 [28] | 3 months | NA | NA | Generalized bullous eruptions and hemorrhagic crusts on the scalp, face, ear, and trunk Serum tryptase level: 58.9 ng/mL |
| Koga H. et al., 2011 [76] | At birth | 14 months | None | Diffuse erythema and blisters on the scalp, face, and extremities At the age of 14 months, erythrodermic rash No evidence of SM. |
| Wawrzycki B. et al., 2013 [77] | At birth | 7 months | NA | Tense blisters on thickened, erythematous skin on the face, trunk, and limbs No evidence of SM |
| Wang H. et al., 2014 [54] | 5 months |
35 years | NA | Familial DCM witch germline p.S451C mutation In the infantile period, generalized blistering At the age of 2 years, there is diffuse thickening of the skin and no blistering |
| Park M. et al., 2014 [62] | At birth | 12 months | Once due to the unknown trigger | Diffuse leathery, erythrodermic rush, blisters on the head, neck, and trunk, with erosions on the face, scalp, and trunk Hepatosplenomegaly and mesenteric lymphadenopathy At the age of 12 months, hyperpigmented skin lesions |
| Otani I. et al., 2018 [36] | 4 months | 3 years | NA | Bullous skin lesions covering a third of the body surface, chest, and abdomen with almost complete reattached epidermis, back with healing, clean-based erosions Thickened skin with a yellowish color at the age of 5 months No further remission after 3 years of KIT K509I mutation Association with Tuberous Sclerosis |
| Hosking A. et al., 2018 [58] | 6 months | NA | NA | Generalized bullous lesions Fevers and emesis No evidence of SM Partial improvement with time |
| Gupta M. et al., 2019 [78] | 3 months | NA | NA | Blisters on the scalp and on the back Thickening of the skin on the abdomen and back No evidence of SM |
| Chaudhary N. et al., 2019 [35] | At birth | 7 weeks | None | Generalized thickening of the skin with folds on the neck and inguinal regions, widespread hyperpigmented crusted lesions, some hypopigmented nodular lesions Hepatosplenomegaly (SM excluded) Death at 7 weeks of age due to acute respiratory distress and worsening cardiac function |
| Jenkinson H. et al., 2019 [40] | 11 days | 8 months | NA | Diffusely infiltrated red-brown skin with a marked leathery appearance and large, tense blisters on both hands No evidence of SM At the age of 8 months, some improvement |
| Li Y et al., 2020 [41] | At birth | NA | NA | Diffused red-brown papules and plaques on the scalp, face, trunk, and extremities Death at the age of one month due to severe infection, respiratory failure, and circulatory failure |
| Cardoso J. et al., 2020 [79] | At birth | NA | NA | Diffuse erythematous leathery plaques and tense bullaes No evidence of SM |
| Turnbull L. et al., 2020 [80] | At birth | NA | NA | Purpuric papules, macules, and bullae on the scalp, face, neck, chest, abdomen, and extremities No evidence of SM Some improvement with time |
| Rayinda T. et al., 2021 [81] | 1.5 years | 2 weeks | NA | Flaccid blisters on the face and body, papules, skin erosion, and erythematous wheals on the back of the face and chest |
| Wangberg H. et al., 2023 [52] | 6 months | Ongoing | 3 reactions provoked by peripheral intravenous placement and unknown triggers | Familial DCM with germline mutation A533D Diffuse blistering rash No evidence of SM At the age of 3 years, some improvement |
| Olteanu E. et. Al, 2023 [38] | At birth | 2 years | NA | Thickened skin, generalized subcutaneous nodules on the face, scalp, trunk, back, hands, and feet At the age of 2 years, nodular lesions on the scalp and face |
NA—not available.