CONCLUSIONS: We describe a mosaic PRKACA duplication in a young infant who presented with a Carney-like complex: bilateral non-pigmented micronodular adrenal hyperplasia, severe early-onset Cushing\'s syndrome, and distinct acral soft tissue overgrowth due to cutaneous mucinosis. This represents a novel manifestation of PRKACA disruption and broadens the extra-adrenal phenotype of PRKACA-associated Cushing\'s syndrome. Our data suggest that Cushing\'s syndrome phenotypes arising from somatic and germline PRKACA abnormalities can exist on a spectrum. We emphasise the value of ascertaining a genetic diagnosis for PRKACA-mediated adrenal and extra-adrenal disease to guide individualised and targeted care.

BACKGROUND: Nodular cutaneous lupus mucinosis is regarded as a distinctive cutaneous mucinosis deposition with systemic lupus erythematosus(SLE). All typical cases occurred as asymptomatic cutaneous papules, nodules, or plaques on the trunk, upper and lower extremities, and face. Histopathology is mainly revealed abundant mucin deposits among splayed collagen bundles in the dermis. At the same time we can find A the typical clinical manifestations and biological evidence of SLE. Here, we report the first case of nodular cutaneous lupus mucinosis that did not present with any prior symptoms or history of SLE.
METHODS: We report the first case of nodular cutaneous lupus mucinosis that did not present with any prior symptoms or history of SLE. The patient was 34 years old. One year before admission, nodules began to appear on the elbows, chest, and back, and 2 months before admission erythema occurred on the face. Other notable clinical symptoms were not observed and had no prior history of SLE.
METHODS: Initially, this patient was misdiagnosed by other clinics as having eczema. After histopathological assessment of skin biopsy and examination of antinuclear antibody signals, the patient was correctly diagnosed with nodular cutaneous lupus mucinosis.
METHODS: Followed administration of systemic steroids and hydroxychloroquine.
RESULTS: the eruptions quickly disappeared and laboratory indicators improved.
CONCLUSIONS: This case highlights the need for diagnostic vigilance in cases involving papules and nodules initially developing on the chest and elbows in the absence of obvious lupoid symptoms. We recommend a lower threshold for performing histopathological analysis and examination of antinuclear antibody signals in view of the rare but serious possibility of nodular cutaneous lupus mucinosis.

Papulonodular mucinosis (PM) is a cutaneous clue to the presence and activity of silent lupus erythematosus (LE), but the exact pathogenesis is still under secret. Moreover, the currently available treatments for PM are not satisfactory. To demonstrate the possibility of multiphoton microscopy (MPM) to trace the pathological state of PM and evaluate the treatment efficacy, epidermal and dermal alteration in skin lesion with PM before and after treatment was examined using MPM. Microstructure of epidermis as well as content and distribution of collagen and elastin in dermis were quantified to characterize the pathological states of PM. The results showed significant morphological difference between skin lesion before and after treatment, indicating the possibility of MPM to assess the therapeutic efficacy. With the advancement on MPM miniaturization and enhancement of contrast and depth of imaging, the MPM technique can be applied in in vivo tracking PM formation and progression, and leading the better understanding the PM pathogenesis and mechanism of response to any treatment, helping to establish novel effective therapies for PM.

Acral persistent papular mucinosis is a rare subtype of localized lichen myxedematosus. It shows symmetric, asymptomatic, chronic, ivory to flesh-colored, 2-5 mm sized papules arranged on the dorsa of the hands and extensor aspects of the distal forearms. Thirty-two cases including two from China, appear to fit the proposed diagnostic criteria. We report a 31-year-old Chinese woman who presented with papules on the extensor aspects of her hands and distal forearms. Histopathology revealed a circumscribed area in the upper and mid reticular dermis with splaying of collagen fibers caused by amorphous deposits. The material was mucin, as it stained positively with alcian blue at pH 2.5. The thyroid profile was normal, and there was no evidence for lupus erythematous. The lesions were treated with electrofulguration and resolved leaving mild scars; there has been no recurrence at follow-up after one year. We also review the literature on this rare form of mucinosis.

The nomenclature and classification of cutaneous mucinosis is quite complex. An updated classification of idiopathic cutaneous mucinosis (lichen myxoedematosus), included three clinicopathological subsets: a generalized papular and sclerodermoid form, a localized papular form, and an atypical or intermediate form. Cutaneous mucinosis occurring in infancy is very rare. We report a 7-month-old boy with a history of multiple opalescent papules over his fingers and toes since birth. The lesions spontaneously regressed and became indiscernible after 5 years of clinical follow-up. The condition was similar to cutaneous mucinosis of infancy but was also unique because of its spontaneous regression and acral location.