Bone marrow aspirate and biopsy were negative for malignancy or atypical changes. Her skin biopsy showed vasculitis with leucocytoclasis with prominent neutrophilic infiltration. [academic.oup.com]

Mauriac Syndrome May-Thurner Syndrome McCune Albright syndrome McDonough Syndrome McKusick Kaufman Syndrome McPherson Clemens Syndrome McPherson Robertson Cammarano Syndrome Meacham Winn Culler Syndrome Meckel-Like Cerebrorenodigital Syndrome meconium aspiration [rgd.mcw.edu]

Generalized microdontia, confirmed by tooth measurement and osteopenia of her jaws, confirmed by digitalized radiography, were previously undescribed syndromic components. Intellectual impairment posed problems during dental intervention. [ncbi.nlm.nih.gov]

[…] lipodystrophy. [1] Other novel mutations resulting in the syndrome have also involved the manifestation of other conditions, such as Sweet's syndrome and pericarditis. [4] Another case in 2015 showcased previously undescribed dental symptoms, such as microdontia [en.wikipedia.org]

The carious dental lesions and poor oral hygiene were treated conservatively under local anaesthetic. [ncbi.nlm.nih.gov]

GENITALIA SYNDROME Microcephaly, Growth Deficiency, Seizures, and Brain Malformations MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance Microcephaly, Macrotia [rgd.mcw.edu]

Other less common manifestations include short stature, heliotrope-like rash on eyelids, severe tylosis on feet and hyperhidrosis of hands and feet. Hepatosplenomegaly is also reported. Lipodystrophy is progressive and irreversible. [orpha.net]

Key symptoms include a persistent fever (higher than 38.5 degrees Celsius), steroid-sensitive erythema nodosum-like (edematous and purpuric) plaques, long clubbed fingers, hyperhidrosis, myositis, hepatosplenomegaly, macroglossia, facial and limbs lipoatrophy [genome.jp]

[…] type 2 atelosteogenesis type 3 atelosteogenesis type I, see atelosteogenesis type 1 atelosteogenesis type III, see atelosteogenesis type 3 atelosteogenesis, type 2, see atelosteogenesis type 2 ATM, see ataxia-telangiectasia atopic dermatitis atopic eczema [mygenomics.com]

Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy Growth Mental Deficiency Syndrome of Myhre GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY Growth Retardation, Small and Puffy Hands and Feet, and Eczema [rgd.mcw.edu]

The skin lesion was composed of generalized violaceous papules and nodules and violaceous puffy eyelids bilaterally. [academic.oup.com]

Patients with CANDLE can also have conjunctivitis, arthralgia without arthritis, nodular episcleritis (irritation and inflammation on the tissue covering the white part of the eye), chondritis of the ear and nose (inflamed cartilage), episodes of asceptic [autoinflammatory.org]

Arthralgia without arthritis is also noted in most patients and significant joint contractures develop over time. [printo.it]

arthralgia, urticaria, neurological problems, severe amyloidosis NALP3 overactive yes Faniilial Mediterranean fever (FMF) Fever, peritonitds, pleuritis, amyloidosis Pyrin overactive partial ryogenic artnritls, pyoderma ga ngrenosum, and acne syndrome [archive.org]

[…] malaise; lymphadenopathy; serositis; and ocular (eg, conjunctivitis, episcleritis), oropharyngeal (eg, aphthous ulcers), gastrointestinal (eg, abdominal pain, bloating, diarrhea), dermatologic (eg, rash, urticaria, pyogenic lesions), musculoskeletal (eg, arthralgias [cfp.ca]

Musculoskeletal Signs Arthralgias are very common in children with CANDLE, but patients do not show radiologic features of arthritis. [frontiersin.org]

In addition, her steatosis with portal, periportal and pericellular fibrosis was shown on a liver biopsy. [academic.oup.com]