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- Presentation
Three Pediatric Dermatology Cases Revealing Genetic Diagnoses
Description
The speaker presented three pediatric dermatology cases that ultimately revealed genetic diagnoses. In the first case, a healthy infant had unusual violaceous, atrophic, and firm blue skin lesions initially mistaken for eczema; biopsy showed bone formation, GNAS testing was positive in the child and father, and the diagnosis was Albright hereditary osteodystrophy/pseudo-pseudohypoparathyroidism, with the note that osteoma cutis can look hypoplastic or vascular early on. In the second case, a girl with circumscribed white patches and poliosis was initially treated unsuccessfully for a pigment disorder, but follow-up revealed additional findings consistent with tuberous sclerosis; the speaker emphasized that circumscribed poliosis may be an early sign, even though it is not part of formal criteria, and that dermoscopy can show retained pigment networks within ash-leaf macules. In the third case, a child with flexural hyperkeratosis, skin fragility, and striking leg hypertrichosis was thought to have a form of ichthyosis/epidermal differentiation disorder; the key clue was the Mazarin phenomenon, and targeted genetic testing confirmed keratin-2-related disease. Across all cases, the speaker stressed careful clinical observation, the value of literature review and specialist input, and the importance of following children over time when the diagnosis is uncertain.
View moreConclusions
- Infantile violaceous, hypoplastic, or vascular-appearing skin lesions with bone on biopsy can represent osteoma cutis from Albright hereditary osteodystrophy, often confirmed by GNAS testing.
- In Albright hereditary osteodystrophy, the presence or absence of hormone resistance and the parent of origin determine whether the diagnosis is pseudohypoparathyroidism or pseudopseudohypoparathyroidism.
- Osteoma cutis in infants may initially look atrophic or bruise-like, so clinicians should consider bone-related disease even when lesions do not appear classic.
- Circumscribed poliosis can be an early or even initial sign of tuberous sclerosis complex and should prompt longitudinal follow-up.
- Dermoscopy can help distinguish ash-leaf macules in tuberous sclerosis from other hypopigmented lesions by showing patchy retained pigment network within a depigmented background.
- Tuberous sclerosis can present first with subtle skin findings such as poliosis before more typical cutaneous or neurologic features emerge.
- Superficial epidermolytic ichthyosis is now better framed as KRT2-related epidermal differentiation disorder, emphasizing genetic classification over older terminology.
- In KRT2-related epidermal differentiation disorder, the Mauserung phenomenon is a classic clue and hypertrichosis can provide an additional diagnostic hint.
- Children with unusual chronic scaling and localized hypertrichosis may benefit from targeted single-gene testing, which can be more efficient than broader workups.
- When the clinical picture is uncertain, taking extra time and consulting colleagues or sharing images can improve diagnostic accuracy and help avoid premature conclusions.
- Three cases of osteoma cutis occurring in infancy. A brief overview of osteoma cutis and its association with pseudo-pseudohypoparathyroidism.#10.1111/j.1440-0960.2010.00722.x
- Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation.#10.1111/j.1365-2133.2009.09543.x
- Atrophic macules containing mesenchymal cells are precursor lesions of osteoma cutis in Albright hereditary osteodystrophy.#10.1111/cup.14397
- Poliosis circumscripta: overview and underlying causes.#10.1016/j.jaad.2013.05.022
- Poliosis as the first clue of tuberous sclerosis.#10.1111/j.1525-1470.2008.00731.x
- Hair graying may occur early in life in tuberous sclerosis complex and is distinct from poliosis.#10.1016/j.jaad.2020.06.133
- Dermoscopy of hypopigmented macules unveiling genetic diagnosis of tuberous sclerosis complex type 2 in an infant presenting with sacral chordoma.#10.1111/pde.15581